Canonical Allele Identifier: CA377836741

Gene: FGF8

Linked Data

• ClinVar Variation Id: 2573738
• ClinVar RCV Id: RCV003318074
• MyVariant Identifiers: chr10:g.103534565G>T (hg19) ; chr10:g.101774808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774808G>T , CM000672.2:g.101774808G>T	GRCh38
NC_000010.10:g.103534565G>T , CM000672.1:g.103534565G>T	GRCh37
NC_000010.9:g.103524555G>T	NCBI36
NG_007151.1:g.6263C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.261C>A MANE Select	ENSP00000321797.2:p.Ser87Arg
ENST00000618991.5:c.-52C>A	ENSP00000484420.1:n.-52C>A
ENST00000344255.8:c.228C>A	ENSP00000340039.3:p.Ser76Arg
ENST00000320185.6:c.261C>A	ENSP00000321797.2:p.Ser87Arg
ENST00000344255.7:c.228C>A	ENSP00000340039.3:p.Ser76Arg
ENST00000346714.7:c.141C>A	ENSP00000344306.3:p.Ser47Arg
ENST00000347978.2:c.174C>A	ENSP00000321945.2:p.Ser58Arg
ENST00000469792.6:c.*225C>A	ENSP00000473299.1:n.*225C>A
ENST00000485728.1:n.137C>A
ENST00000618991.4:c.-52C>A	ENSP00000484420.1:n.-52C>A
NM_001206389.1:c.-52C>A	NP_001193318.1:n.-52C>A
NM_006119.4:c.174C>A	NP_006110.1:p.Ser58Arg
NM_033163.3:c.261C>A	NP_149353.1:p.Ser87Arg
NM_033164.3:c.228C>A	NP_149354.1:p.Ser76Arg
NM_033165.3:c.141C>A	NP_149355.1:p.Ser47Arg
XM_011539509.1:c.183C>A	XP_011537811.1:p.Ser61Arg
NM_006119.5:c.174C>A	NP_006110.1:p.Ser58Arg
NM_033163.4:c.261C>A	NP_149353.1:p.Ser87Arg
NM_033164.4:c.228C>A	NP_149354.1:p.Ser76Arg
NM_033165.4:c.141C>A	NP_149355.1:p.Ser47Arg
NM_001206389.2:c.-52C>A	NP_001193318.1:n.-52C>A
NM_006119.6:c.174C>A	NP_006110.1:p.Ser58Arg
NM_033163.5:c.261C>A MANE Select	NP_149353.1:p.Ser87Arg
NM_033165.5:c.141C>A	NP_149355.1:p.Ser47Arg