Canonical Allele Identifier: CA377837057
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101774846G>T , CM000672.2:g.101774846G>T GRCh38
NC_000010.10:g.103534603G>T , CM000672.1:g.103534603G>T GRCh37
NC_000010.9:g.103524593G>T NCBI36
NG_007151.1:g.6225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.223C>A MANE Select ENSP00000321797.2:p.Leu75Ile
ENST00000618991.5:c.-90C>A ENSP00000484420.1:n.-90C>A
ENST00000344255.8:c.190C>A ENSP00000340039.3:p.Leu64Ile
ENST00000320185.6:c.223C>A ENSP00000321797.2:p.Leu75Ile
ENST00000344255.7:c.190C>A ENSP00000340039.3:p.Leu64Ile
ENST00000346714.7:c.103C>A ENSP00000344306.3:p.Leu35Ile
ENST00000347978.2:c.136C>A ENSP00000321945.2:p.Leu46Ile
ENST00000469792.6:c.*187C>A ENSP00000473299.1:n.*187C>A
ENST00000485728.1:n.99C>A
ENST00000618991.4:c.-90C>A ENSP00000484420.1:n.-90C>A
NM_001206389.1:c.-90C>A NP_001193318.1:n.-90C>A
NM_006119.4:c.136C>A NP_006110.1:p.Leu46Ile
NM_033163.3:c.223C>A NP_149353.1:p.Leu75Ile
NM_033164.3:c.190C>A NP_149354.1:p.Leu64Ile
NM_033165.3:c.103C>A NP_149355.1:p.Leu35Ile
XM_011539509.1:c.145C>A XP_011537811.1:p.Leu49Ile
NM_006119.5:c.136C>A NP_006110.1:p.Leu46Ile
NM_033163.4:c.223C>A NP_149353.1:p.Leu75Ile
NM_033164.4:c.190C>A NP_149354.1:p.Leu64Ile
NM_033165.4:c.103C>A NP_149355.1:p.Leu35Ile
NM_001206389.2:c.-90C>A NP_001193318.1:n.-90C>A
NM_006119.6:c.136C>A NP_006110.1:p.Leu46Ile
NM_033163.5:c.223C>A MANE Select NP_149353.1:p.Leu75Ile
NM_033165.5:c.103C>A NP_149355.1:p.Leu35Ile