Canonical Allele Identifier: CA377836561

Gene: FGF8

Linked Data

• ClinVar Variation Id: 1708951
• ClinVar RCV Id: RCV002288235
• MyVariant Identifiers: chr10:g.103534548T>C (hg19) ; chr10:g.101774791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774791T>C , CM000672.2:g.101774791T>C	GRCh38
NC_000010.10:g.103534548T>C , CM000672.1:g.103534548T>C	GRCh37
NC_000010.9:g.103524538T>C	NCBI36
NG_007151.1:g.6280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.278A>G MANE Select	ENSP00000321797.2:p.His93Arg
ENST00000618991.5:c.-35A>G	ENSP00000484420.1:n.-35A>G
ENST00000344255.8:c.245A>G	ENSP00000340039.3:p.His82Arg
ENST00000320185.6:c.278A>G	ENSP00000321797.2:p.His93Arg
ENST00000344255.7:c.245A>G	ENSP00000340039.3:p.His82Arg
ENST00000346714.7:c.158A>G	ENSP00000344306.3:p.His53Arg
ENST00000347978.2:c.191A>G	ENSP00000321945.2:p.His64Arg
ENST00000469792.6:c.*242A>G	ENSP00000473299.1:n.*242A>G
ENST00000485728.1:n.154A>G
ENST00000618991.4:c.-35A>G	ENSP00000484420.1:n.-35A>G
NM_001206389.1:c.-35A>G	NP_001193318.1:n.-35A>G
NM_006119.4:c.191A>G	NP_006110.1:p.His64Arg
NM_033163.3:c.278A>G	NP_149353.1:p.His93Arg
NM_033164.3:c.245A>G	NP_149354.1:p.His82Arg
NM_033165.3:c.158A>G	NP_149355.1:p.His53Arg
XM_011539509.1:c.200A>G	XP_011537811.1:p.His67Arg
NM_006119.5:c.191A>G	NP_006110.1:p.His64Arg
NM_033163.4:c.278A>G	NP_149353.1:p.His93Arg
NM_033164.4:c.245A>G	NP_149354.1:p.His82Arg
NM_033165.4:c.158A>G	NP_149355.1:p.His53Arg
NM_001206389.2:c.-35A>G	NP_001193318.1:n.-35A>G
NM_006119.6:c.191A>G	NP_006110.1:p.His64Arg
NM_033163.5:c.278A>G MANE Select	NP_149353.1:p.His93Arg
NM_033165.5:c.158A>G	NP_149355.1:p.His53Arg