Canonical Allele Identifier: CA377834460
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000320185.7:c.376G>C MANE Select ENSP00000321797.2:p.Val126Leu
ENST00000618991.5:c.64G>C ENSP00000484420.1:p.Val22Leu
ENST00000344255.8:c.343G>C ENSP00000340039.3:p.Val115Leu
ENST00000320185.6:c.376G>C ENSP00000321797.2:p.Val126Leu
ENST00000344255.7:c.343G>C ENSP00000340039.3:p.Val115Leu
ENST00000346714.7:c.256G>C ENSP00000344306.3:p.Val86Leu
ENST00000347978.2:c.289G>C ENSP00000321945.2:p.Val97Leu
ENST00000469792.6:c.*340G>C ENSP00000473299.1:n.*340G>C
ENST00000485728.1:n.252G>C
ENST00000618991.4:c.64G>C ENSP00000484420.1:p.Val22Leu
NM_001206389.1:c.64G>C NP_001193318.1:p.Val22Leu
NM_006119.4:c.289G>C NP_006110.1:p.Val97Leu
NM_033163.3:c.376G>C NP_149353.1:p.Val126Leu
NM_033164.3:c.343G>C NP_149354.1:p.Val115Leu
NM_033165.3:c.256G>C NP_149355.1:p.Val86Leu
XM_011539509.1:c.298G>C XP_011537811.1:p.Val100Leu
XR_946251.1:n.312C>G
XR_946252.1:n.243C>G
XR_946253.1:n.241C>G
XR_946252.2:n.333C>G
XR_946253.2:n.331C>G
NM_006119.5:c.289G>C NP_006110.1:p.Val97Leu
NM_033163.4:c.376G>C NP_149353.1:p.Val126Leu
NM_033164.4:c.343G>C NP_149354.1:p.Val115Leu
NM_033165.4:c.256G>C NP_149355.1:p.Val86Leu
NM_001206389.2:c.64G>C NP_001193318.1:p.Val22Leu
NM_006119.6:c.289G>C NP_006110.1:p.Val97Leu
NM_033163.5:c.376G>C MANE Select NP_149353.1:p.Val126Leu
NM_033165.5:c.256G>C NP_149355.1:p.Val86Leu