Canonical Allele Identifier: CA460499327
Gene: FGFR1 HGNC NCBI

Linked Data

dbSNP Id: rs2150523048
MyVariant Identifiers: chr8:g.38271520G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38414002G>A , CM000670.2:g.38414002G>A GRCh38
NC_000008.10:g.38271520G>A , CM000670.1:g.38271520G>A GRCh37
NC_000008.9:g.38390677G>A NCBI36
NG_007729.1:g.59833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.2208C>T ENSP00000515291.1:p.Cys736=
ENST00000341462.9:c.2196C>T ENSP00000340636.7:p.Cys732=
ENST00000425967.8:c.2196C>T ENSP00000393312.4:p.Cys732=
ENST00000524528.2:n.3101C>T
ENST00000682398.1:n.1448C>T
ENST00000683132.1:n.898C>T
ENST00000683765.1:c.2388C>T ENSP00000507039.1:p.Cys796=
ENST00000683815.1:c.2196C>T ENSP00000507997.1:p.Cys732=
ENST00000683948.1:n.2896C>T
ENST00000684654.1:c.1929C>T ENSP00000507205.1:p.Cys643=
ENST00000447712.7:c.2208C>T MANE Select ENSP00000400162.2:p.Cys736=
ENST00000649678.1:c.2196C>T ENSP00000497266.1:p.Cys732=
ENST00000674189.1:c.*1854C>T ENSP00000501345.1:n.*1854C>T
ENST00000674380.1:c.*2175C>T ENSP00000501514.1:n.*2175C>T
ENST00000674474.1:n.3702C>T
ENST00000326324.10:c.1935C>T ENSP00000327229.6:p.Cys645=
ENST00000335922.9:c.2178C>T ENSP00000337247.5:p.Cys726=
ENST00000341462.8:c.*1258C>T ENSP00000340636.6:n.*1258C>T
ENST00000356207.9:c.1941C>T ENSP00000348537.5:p.Cys647=
ENST00000397091.9:c.2202C>T ENSP00000380280.5:p.Cys734=
ENST00000397103.5:c.1941C>T ENSP00000380292.1:p.Cys647=
ENST00000397108.8:c.2202C>T ENSP00000380297.4:p.Cys734=
ENST00000397113.6:c.2202C>T ENSP00000380302.2:p.Cys734=
ENST00000425967.7:c.2301C>T ENSP00000393312.3:p.Cys767=
ENST00000447712.6:c.2208C>T ENSP00000400162.2:p.Cys736=
ENST00000526570.5:n.4487C>T
ENST00000531196.5:c.419C>T ENSP00000434800.1:n.419C>T
ENST00000532791.5:c.2202C>T ENSP00000432972.1:p.Cys734=
ENST00000619564.3:c.*1103C>T ENSP00000484553.1:n.*1103C>T
NM_001174063.1:c.2202C>T NP_001167534.1:p.Cys734=
NM_001174064.1:c.2178C>T NP_001167535.1:p.Cys726=
NM_001174065.1:c.2202C>T NP_001167536.1:p.Cys734=
NM_001174066.1:c.1941C>T NP_001167537.1:p.Cys647=
NM_001174067.1:c.2301C>T NP_001167538.1:p.Cys767=
NM_015850.3:c.2202C>T NP_056934.2:p.Cys734=
NM_023105.2:c.1941C>T NP_075593.1:p.Cys647=
NM_023106.2:c.1935C>T NP_075594.1:p.Cys645=
NM_023110.2:c.2208C>T NP_075598.2:p.Cys736=
XM_006716303.2:c.2208C>T XP_006716366.1:p.Cys736=
XM_006716304.1:c.2208C>T XP_006716367.1:p.Cys736=
XM_006716305.2:c.2208C>T XP_006716368.1:p.Cys736=
XM_006716306.2:c.2202C>T XP_006716369.1:p.Cys734=
XM_006716307.1:c.2202C>T XP_006716370.1:p.Cys734=
XM_006716309.2:c.2184C>T XP_006716372.1:p.Cys728=
XM_006716310.2:c.1941C>T XP_006716373.1:p.Cys647=
XM_006716311.1:c.1941C>T XP_006716374.1:p.Cys647=
XM_006716312.1:c.1941C>T XP_006716375.1:p.Cys647=
XM_006716313.2:c.1935C>T XP_006716376.1:p.Cys645=
XM_006716314.1:c.1935C>T XP_006716377.1:p.Cys645=
XM_011544443.1:c.2307C>T XP_011542745.1:p.Cys769=
XM_011544444.1:c.2301C>T XP_011542746.1:p.Cys767=
XM_011544445.1:c.2301C>T XP_011542747.1:p.Cys767=
XM_011544446.1:c.2307C>T XP_011542748.1:p.Cys769=
XM_011544447.1:c.2301C>T XP_011542749.1:p.Cys767=
XM_011544448.1:c.2040C>T XP_011542750.1:p.Cys680=
XM_011544449.1:c.2034C>T XP_011542751.1:p.Cys678=
XM_011544450.1:c.2034C>T XP_011542752.1:p.Cys678=
XM_011544451.1:c.1917C>T XP_011542753.1:p.Cys639=
NM_001354367.1:c.2202C>T NP_001341296.1:p.Cys734=
NM_001354368.1:c.1929C>T NP_001341297.1:p.Cys643=
NM_001354369.1:c.2196C>T NP_001341298.1:p.Cys732=
NM_001354370.1:c.1935C>T NP_001341299.1:p.Cys645=
XM_006716303.3:c.2208C>T XP_006716366.1:p.Cys736=
XM_006716310.3:c.1941C>T XP_006716373.1:p.Cys647=
XM_006716312.2:c.1941C>T XP_006716375.1:p.Cys647=
XM_006716314.2:c.1935C>T XP_006716377.1:p.Cys645=
XM_011544443.2:c.2307C>T XP_011542745.1:p.Cys769=
XM_011544445.2:c.2301C>T XP_011542747.1:p.Cys767=
XM_011544446.2:c.2307C>T XP_011542748.1:p.Cys769=
XM_011544447.2:c.2301C>T XP_011542749.1:p.Cys767=
XM_011544450.2:c.2034C>T XP_011542752.1:p.Cys678=
XM_017013219.1:c.2295C>T XP_016868708.1:p.Cys765=
XM_017013220.1:c.2295C>T XP_016868709.1:p.Cys765=
XM_017013221.1:c.2208C>T XP_016868710.1:p.Cys736=
XM_017013222.2:c.2202C>T XP_016868711.1:p.Cys734=
XM_017013224.2:c.2196C>T XP_016868713.1:p.Cys732=
XM_017013225.2:c.2196C>T XP_016868714.1:p.Cys732=
XM_017013226.1:c.2034C>T XP_016868715.1:p.Cys678=
XM_017013227.1:c.2028C>T XP_016868716.1:p.Cys676=
XM_017013229.2:c.1236C>T XP_016868718.1:p.Cys412=
XM_017013230.1:c.1236C>T XP_016868719.1:p.Cys412=
XM_024447097.1:c.2184C>T XP_024302865.1:p.Cys728=
XR_001745495.1:n.2481C>T
XR_001745496.1:n.2481C>T
NM_001174063.2:c.2202C>T NP_001167534.1:p.Cys734=
NM_001174064.2:c.2178C>T NP_001167535.1:p.Cys726=
NM_001174065.2:c.2202C>T NP_001167536.1:p.Cys734=
NM_001174066.2:c.1941C>T NP_001167537.1:p.Cys647=
NM_001354368.2:c.1929C>T NP_001341297.1:p.Cys643=
NM_015850.4:c.2202C>T NP_056934.2:p.Cys734=
NM_023105.3:c.1941C>T NP_075593.1:p.Cys647=
NM_023106.3:c.1935C>T NP_075594.1:p.Cys645=
NM_023110.3:c.2208C>T MANE Select NP_075598.2:p.Cys736=
NM_001174067.2:c.2301C>T NP_001167538.1:p.Cys767=
NM_001354367.2:c.2202C>T NP_001341296.1:p.Cys734=
NM_001354369.2:c.2196C>T NP_001341298.1:p.Cys732=
NM_001354370.2:c.1935C>T NP_001341299.1:p.Cys645=