Canonical Allele Identifier: CA260616
Gene: FGF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9123
ClinVar RCV Id: RCV000030887
dbSNP Id: rs137852661

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101775168A>G , CM000672.2:g.101775168A>G GRCh38
NC_000010.10:g.103534925A>G , CM000672.1:g.103534925A>G GRCh37
NC_000010.9:g.103524915A>G NCBI36
NG_007151.1:g.5903T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320185.7:c.118T>C MANE Select ENSP00000321797.2:p.Phe40Leu
ENST00000618991.5:c.-123-289T>C ENSP00000484420.1:n.-123-289T>C
ENST00000344255.8:c.118T>C ENSP00000340039.3:p.Phe40Leu
ENST00000320185.6:c.118T>C ENSP00000321797.2:p.Phe40Leu
ENST00000344255.7:c.118T>C ENSP00000340039.3:p.Phe40Leu
ENST00000346714.7:c.70-289T>C ENSP00000344306.3:n.70-289T>C
ENST00000347978.2:c.70-256T>C ENSP00000321945.2:n.70-256T>C
ENST00000469792.6:c.*154-289T>C ENSP00000473299.1:n.*154-289T>C
ENST00000485728.1:n.33-256T>C
ENST00000618991.4:c.-123-289T>C ENSP00000484420.1:n.-123-289T>C
NM_001206389.1:c.-123-289T>C NP_001193318.1:n.-123-289T>C
NM_006119.4:c.70-256T>C NP_006110.1:n.70-256T>C
NM_033163.3:c.118T>C NP_149353.1:p.Phe40Leu
NM_033164.3:c.118T>C NP_149354.1:p.Phe40Leu
NM_033165.3:c.70-289T>C NP_149355.1:n.70-289T>C
XM_011539509.1:c.79-256T>C XP_011537811.1:n.79-256T>C
NM_006119.5:c.70-256T>C NP_006110.1:n.70-256T>C
NM_033163.4:c.118T>C NP_149353.1:p.Phe40Leu
NM_033164.4:c.118T>C NP_149354.1:p.Phe40Leu
NM_033165.4:c.70-289T>C NP_149355.1:n.70-289T>C
NM_001206389.2:c.-123-289T>C NP_001193318.1:n.-123-289T>C
NM_006119.6:c.70-256T>C NP_006110.1:n.70-256T>C
NM_033163.5:c.118T>C MANE Select NP_149353.1:p.Phe40Leu
NM_033165.5:c.70-289T>C NP_149355.1:n.70-289T>C