Canonical Allele Identifier: CA377836989

Gene: FGF8

Linked Data

• ClinVar Variation Id: 2117899
• ClinVar RCV Id: RCV003053487
• gnomAD v4: 10-101774837-G-A
• MyVariant Identifiers: chr10:g.103534594G>A (hg19) ; chr10:g.101774837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774837G>A , CM000672.2:g.101774837G>A	GRCh38
NC_000010.10:g.103534594G>A , CM000672.1:g.103534594G>A	GRCh37
NC_000010.9:g.103524584G>A	NCBI36
NG_007151.1:g.6234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.232C>T MANE Select	ENSP00000321797.2:p.Arg78Cys
ENST00000618991.5:c.-81C>T	ENSP00000484420.1:n.-81C>T
ENST00000344255.8:c.199C>T	ENSP00000340039.3:p.Arg67Cys
ENST00000320185.6:c.232C>T	ENSP00000321797.2:p.Arg78Cys
ENST00000344255.7:c.199C>T	ENSP00000340039.3:p.Arg67Cys
ENST00000346714.7:c.112C>T	ENSP00000344306.3:p.Arg38Cys
ENST00000347978.2:c.145C>T	ENSP00000321945.2:p.Arg49Cys
ENST00000469792.6:c.*196C>T	ENSP00000473299.1:n.*196C>T
ENST00000485728.1:n.108C>T
ENST00000618991.4:c.-81C>T	ENSP00000484420.1:n.-81C>T
NM_001206389.1:c.-81C>T	NP_001193318.1:n.-81C>T
NM_006119.4:c.145C>T	NP_006110.1:p.Arg49Cys
NM_033163.3:c.232C>T	NP_149353.1:p.Arg78Cys
NM_033164.3:c.199C>T	NP_149354.1:p.Arg67Cys
NM_033165.3:c.112C>T	NP_149355.1:p.Arg38Cys
XM_011539509.1:c.154C>T	XP_011537811.1:p.Arg52Cys
NM_006119.5:c.145C>T	NP_006110.1:p.Arg49Cys
NM_033163.4:c.232C>T	NP_149353.1:p.Arg78Cys
NM_033164.4:c.199C>T	NP_149354.1:p.Arg67Cys
NM_033165.4:c.112C>T	NP_149355.1:p.Arg38Cys
NM_001206389.2:c.-81C>T	NP_001193318.1:n.-81C>T
NM_006119.6:c.145C>T	NP_006110.1:p.Arg49Cys
NM_033163.5:c.232C>T MANE Select	NP_149353.1:p.Arg78Cys
NM_033165.5:c.112C>T	NP_149355.1:p.Arg38Cys