Canonical Allele Identifier: CA377834458
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771531C>A , CM000672.2:g.101771531C>A GRCh38
NC_000010.10:g.103531288C>A , CM000672.1:g.103531288C>A GRCh37
NC_000010.9:g.103521278C>A NCBI36
NG_007151.1:g.9540G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320185.7:c.376G>T MANE Select ENSP00000321797.2:p.Val126Phe
ENST00000618991.5:c.64G>T ENSP00000484420.1:p.Val22Phe
ENST00000344255.8:c.343G>T ENSP00000340039.3:p.Val115Phe
ENST00000320185.6:c.376G>T ENSP00000321797.2:p.Val126Phe
ENST00000344255.7:c.343G>T ENSP00000340039.3:p.Val115Phe
ENST00000346714.7:c.256G>T ENSP00000344306.3:p.Val86Phe
ENST00000347978.2:c.289G>T ENSP00000321945.2:p.Val97Phe
ENST00000469792.6:c.*340G>T ENSP00000473299.1:n.*340G>T
ENST00000485728.1:n.252G>T
ENST00000618991.4:c.64G>T ENSP00000484420.1:p.Val22Phe
NM_001206389.1:c.64G>T NP_001193318.1:p.Val22Phe
NM_006119.4:c.289G>T NP_006110.1:p.Val97Phe
NM_033163.3:c.376G>T NP_149353.1:p.Val126Phe
NM_033164.3:c.343G>T NP_149354.1:p.Val115Phe
NM_033165.3:c.256G>T NP_149355.1:p.Val86Phe
XM_011539509.1:c.298G>T XP_011537811.1:p.Val100Phe
XR_946251.1:n.312C>A
XR_946252.1:n.243C>A
XR_946253.1:n.241C>A
XR_946252.2:n.333C>A
XR_946253.2:n.331C>A
NM_006119.5:c.289G>T NP_006110.1:p.Val97Phe
NM_033163.4:c.376G>T NP_149353.1:p.Val126Phe
NM_033164.4:c.343G>T NP_149354.1:p.Val115Phe
NM_033165.4:c.256G>T NP_149355.1:p.Val86Phe
NM_001206389.2:c.64G>T NP_001193318.1:p.Val22Phe
NM_006119.6:c.289G>T NP_006110.1:p.Val97Phe
NM_033163.5:c.376G>T MANE Select NP_149353.1:p.Val126Phe
NM_033165.5:c.256G>T NP_149355.1:p.Val86Phe