Canonical Allele Identifier: CA130216
Gene: FGFR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16283
ClinVar RCV Id: RCV000030927
dbSNP Id: rs121909629

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38415905C>T , CM000670.2:g.38415905C>T GRCh38
NC_000008.9:g.38392580C>T NCBI36
NC_000008.10:g.38273423C>T , CM000670.1:g.38273423C>T GRCh37
NG_007729.1:g.57930G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326324.10:c.1546G>A ENSP00000327229.6:p.Val516Met
ENST00000335922.9:c.1789G>A ENSP00000337247.5:p.Val597Met
ENST00000341462.8:c.*869G>A ENSP00000340636.6:p.=
ENST00000356207.9:c.1552G>A ENSP00000348537.5:p.Val518Met
ENST00000397091.9:c.1813G>A ENSP00000380280.5:p.Val605Met
ENST00000397103.5:c.1552G>A ENSP00000380292.1:p.Val518Met
ENST00000397108.8:c.1813G>A ENSP00000380297.4:p.Val605Met
ENST00000397113.6:c.1813G>A ENSP00000380302.2:p.Val605Met
ENST00000425967.7:c.1912G>A ENSP00000393312.3:p.Val638Met
ENST00000447712.6:c.1819G>A ENSP00000400162.2:p.Val607Met
ENST00000526570.5:n.4098G>A
ENST00000527114.5:n.1341G>A
ENST00000531196.5:n.19G>A ENSP00000434800.1:p.Val7Met
ENST00000532791.5:c.1813G>A ENSP00000432972.1:p.Val605Met
ENST00000533619.5:n.365G>A
ENST00000619564.3:c.*714G>A ENSP00000484553.1:p.=
NM_001174063.1:c.1813G>A VV NP_001167534.1:p.Val605Met
NM_001174064.1:c.1789G>A VV NP_001167535.1:p.Val597Met
NM_001174065.1:c.1813G>A VV NP_001167536.1:p.Val605Met
NM_001174066.1:c.1552G>A VV NP_001167537.1:p.Val518Met
NM_001174067.1:c.1912G>A VV NP_001167538.1:p.Val638Met
NM_015850.3:c.1813G>A VV NP_056934.2:p.Val605Met
NM_023105.2:c.1552G>A VV NP_075593.1:p.Val518Met
NM_023106.2:c.1546G>A VV NP_075594.1:p.Val516Met
NM_023110.2:c.1819G>A VV NP_075598.2:p.Val607Met
XM_006716303.2:c.1819G>A XP_006716366.1:p.Val607Met
XM_006716304.1:c.1819G>A XP_006716367.1:p.Val607Met
XM_006716305.2:c.1819G>A XP_006716368.1:p.Val607Met
XM_006716306.2:c.1813G>A XP_006716369.1:p.Val605Met
XM_006716307.1:c.1813G>A XP_006716370.1:p.Val605Met
XM_006716309.2:c.1795G>A XP_006716372.1:p.Val599Met
XM_006716310.2:c.1552G>A XP_006716373.1:p.Val518Met
XM_006716311.1:c.1552G>A XP_006716374.1:p.Val518Met
XM_006716312.1:c.1552G>A XP_006716375.1:p.Val518Met
XM_006716313.2:c.1546G>A XP_006716376.1:p.Val516Met
XM_006716314.1:c.1546G>A XP_006716377.1:p.Val516Met
XM_011544443.1:c.1918G>A XP_011542745.1:p.Val640Met
XM_011544444.1:c.1912G>A XP_011542746.1:p.Val638Met
XM_011544445.1:c.1912G>A XP_011542747.1:p.Val638Met
XM_011544446.1:c.1918G>A XP_011542748.1:p.Val640Met
XM_011544447.1:c.1912G>A XP_011542749.1:p.Val638Met
XM_011544448.1:c.1651G>A XP_011542750.1:p.Val551Met
XM_011544449.1:c.1645G>A XP_011542751.1:p.Val549Met
XM_011544450.1:c.1645G>A XP_011542752.1:p.Val549Met
XM_011544451.1:c.1528G>A XP_011542753.1:p.Val510Met