Canonical Allele Identifier: CA370727493

Gene: FGFR1

Linked Data

• MyVariant Identifiers: chr8:g.38271291T>A (hg19) ; chr8:g.38413773T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38413773T>A , CM000670.2:g.38413773T>A	GRCh38
NC_000008.10:g.38271291T>A , CM000670.1:g.38271291T>A	GRCh37
NC_000008.9:g.38390448T>A	NCBI36
NG_007729.1:g.60062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.2324A>T	ENSP00000515291.1:p.Gln775Leu
ENST00000341462.9:c.2280+145A>T	ENSP00000340636.7:n.2280+145A>T
ENST00000425967.8:c.2280+145A>T	ENSP00000393312.4:n.2280+145A>T
ENST00000524528.2:n.3217A>T
ENST00000682398.1:n.1564A>T
ENST00000683132.1:n.1127A>T
ENST00000683765.1:c.2472+145A>T	ENSP00000507039.1:n.2472+145A>T
ENST00000683815.1:c.2312A>T	ENSP00000507997.1:p.Gln771Leu
ENST00000683948.1:n.3012A>T
ENST00000684654.1:c.2045A>T	ENSP00000507205.1:p.Gln682Leu
ENST00000447712.7:c.2324A>T MANE Select	ENSP00000400162.2:p.Gln775Leu
ENST00000649678.1:c.2312A>T	ENSP00000497266.1:p.Gln771Leu
ENST00000674189.1:c.*1938+145A>T	ENSP00000501345.1:n.*1938+145A>T
ENST00000674380.1:c.*2291A>T	ENSP00000501514.1:n.*2291A>T
ENST00000674474.1:n.3818A>T
ENST00000326324.10:c.2051A>T	ENSP00000327229.6:p.Gln684Leu
ENST00000335922.9:c.2294A>T	ENSP00000337247.5:p.Gln765Leu
ENST00000341462.8:c.*1374A>T	ENSP00000340636.6:n.*1374A>T
ENST00000356207.9:c.2057A>T	ENSP00000348537.5:p.Gln686Leu
ENST00000397091.9:c.2318A>T	ENSP00000380280.5:p.Gln773Leu
ENST00000397103.5:c.2057A>T	ENSP00000380292.1:p.Gln686Leu
ENST00000397108.8:c.2318A>T	ENSP00000380297.4:p.Gln773Leu
ENST00000397113.6:c.2318A>T	ENSP00000380302.2:p.Gln773Leu
ENST00000425967.7:c.2417A>T	ENSP00000393312.3:p.Gln806Leu
ENST00000447712.6:c.2324A>T	ENSP00000400162.2:p.Gln775Leu
ENST00000526570.5:n.4603A>T
ENST00000526688.1:n.59+145A>T
ENST00000531196.5:c.535A>T	ENSP00000434800.1:n.535A>T
ENST00000532791.5:c.2318A>T	ENSP00000432972.1:p.Gln773Leu
ENST00000619564.3:c.*1219A>T	ENSP00000484553.1:n.*1219A>T
NM_001174063.1:c.2318A>T	NP_001167534.1:p.Gln773Leu
NM_001174064.1:c.2294A>T	NP_001167535.1:p.Gln765Leu
NM_001174065.1:c.2318A>T	NP_001167536.1:p.Gln773Leu
NM_001174066.1:c.2057A>T	NP_001167537.1:p.Gln686Leu
NM_001174067.1:c.2417A>T	NP_001167538.1:p.Gln806Leu
NM_015850.3:c.2318A>T	NP_056934.2:p.Gln773Leu
NM_023105.2:c.2057A>T	NP_075593.1:p.Gln686Leu
NM_023106.2:c.2051A>T	NP_075594.1:p.Gln684Leu
NM_023110.2:c.2324A>T	NP_075598.2:p.Gln775Leu
XM_006716303.2:c.2292+145A>T	XP_006716366.1:n.2292+145A>T
XM_006716304.1:c.2292+145A>T	XP_006716367.1:n.2292+145A>T
XM_006716305.2:c.2292+145A>T	XP_006716368.1:n.2292+145A>T
XM_006716306.2:c.2286+145A>T	XP_006716369.1:n.2286+145A>T
XM_006716307.1:c.2286+145A>T	XP_006716370.1:n.2286+145A>T
XM_006716309.2:c.2268+145A>T	XP_006716372.1:n.2268+145A>T
XM_006716310.2:c.2025+145A>T	XP_006716373.1:n.2025+145A>T
XM_006716311.1:c.2025+145A>T	XP_006716374.1:n.2025+145A>T
XM_006716312.1:c.2025+145A>T	XP_006716375.1:n.2025+145A>T
XM_006716313.2:c.2019+145A>T	XP_006716376.1:n.2019+145A>T
XM_006716314.1:c.2019+145A>T	XP_006716377.1:n.2019+145A>T
XM_011544443.1:c.2391+145A>T	XP_011542745.1:n.2391+145A>T
XM_011544444.1:c.2385+145A>T	XP_011542746.1:n.2385+145A>T
XM_011544445.1:c.2385+145A>T	XP_011542747.1:n.2385+145A>T
XM_011544446.1:c.2423A>T	XP_011542748.1:p.Gln808Leu
XM_011544447.1:c.2417A>T	XP_011542749.1:p.Gln806Leu
XM_011544448.1:c.2124+145A>T	XP_011542750.1:n.2124+145A>T
XM_011544449.1:c.2118+145A>T	XP_011542751.1:n.2118+145A>T
XM_011544450.1:c.2150A>T	XP_011542752.1:p.Gln717Leu
XM_011544451.1:c.2001+145A>T	XP_011542753.1:n.2001+145A>T
NM_001354367.1:c.2286+145A>T	NP_001341296.1:n.2286+145A>T
NM_001354368.1:c.2045A>T	NP_001341297.1:p.Gln682Leu
NM_001354369.1:c.2280+145A>T	NP_001341298.1:n.2280+145A>T
NM_001354370.1:c.2019+145A>T	NP_001341299.1:n.2019+145A>T
XM_006716303.3:c.2292+145A>T	XP_006716366.1:n.2292+145A>T
XM_006716310.3:c.2025+145A>T	XP_006716373.1:n.2025+145A>T
XM_006716312.2:c.2025+145A>T	XP_006716375.1:n.2025+145A>T
XM_006716314.2:c.2019+145A>T	XP_006716377.1:n.2019+145A>T
XM_011544443.2:c.2391+145A>T	XP_011542745.1:n.2391+145A>T
XM_011544445.2:c.2385+145A>T	XP_011542747.1:n.2385+145A>T
XM_011544446.2:c.2423A>T	XP_011542748.1:p.Gln808Leu
XM_011544447.2:c.2417A>T	XP_011542749.1:p.Gln806Leu
XM_011544450.2:c.2150A>T	XP_011542752.1:p.Gln717Leu
XM_017013219.1:c.2379+145A>T	XP_016868708.1:n.2379+145A>T
XM_017013220.1:c.2411A>T	XP_016868709.1:p.Gln804Leu
XM_017013221.1:c.2292+145A>T	XP_016868710.1:n.2292+145A>T
XM_017013222.2:c.2286+145A>T	XP_016868711.1:n.2286+145A>T
XM_017013224.2:c.2312A>T	XP_016868713.1:p.Gln771Leu
XM_017013225.2:c.2312A>T	XP_016868714.1:p.Gln771Leu
XM_017013226.1:c.2150A>T	XP_016868715.1:p.Gln717Leu
XM_017013227.1:c.2144A>T	XP_016868716.1:p.Gln715Leu
XM_017013229.2:c.1320+145A>T	XP_016868718.1:n.1320+145A>T
XM_017013230.1:c.1352A>T	XP_016868719.1:p.Gln451Leu
XM_024447097.1:c.2268+145A>T	XP_024302865.1:n.2268+145A>T
XR_001745495.1:n.2597A>T
XR_001745496.1:n.2565+145A>T
NM_001174063.2:c.2318A>T	NP_001167534.1:p.Gln773Leu
NM_001174064.2:c.2294A>T	NP_001167535.1:p.Gln765Leu
NM_001174065.2:c.2318A>T	NP_001167536.1:p.Gln773Leu
NM_001174066.2:c.2057A>T	NP_001167537.1:p.Gln686Leu
NM_001354368.2:c.2045A>T	NP_001341297.1:p.Gln682Leu
NM_015850.4:c.2318A>T	NP_056934.2:p.Gln773Leu
NM_023105.3:c.2057A>T	NP_075593.1:p.Gln686Leu
NM_023106.3:c.2051A>T	NP_075594.1:p.Gln684Leu
NM_023110.3:c.2324A>T MANE Select	NP_075598.2:p.Gln775Leu
NM_001174067.2:c.2417A>T	NP_001167538.1:p.Gln806Leu
NM_001354367.2:c.2286+145A>T	NP_001341296.1:n.2286+145A>T
NM_001354369.2:c.2280+145A>T	NP_001341298.1:n.2280+145A>T
NM_001354370.2:c.2019+145A>T	NP_001341299.1:n.2019+145A>T