Canonical Allele Identifier: CA10568496

Gene: F8

Linked Data

• dbSNP Id: rs367937331
• ExAC: X:154194833 T / C
• gnomAD v2: X-154194833-T-C
• gnomAD v3: X-154966558-T-C
• gnomAD v4: X-154966558-T-C
• MyVariant Identifiers: chrX:g.154194833T>C (hg19) ; chrX:g.154966558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154966558T>C , CM000685.2:g.154966558T>C	GRCh38
NC_000023.10:g.154194833T>C , CM000685.1:g.154194833T>C	GRCh37
NC_000023.9:g.153848027T>C	NCBI36
NG_011403.1:g.61166A>G
NG_011403.2:g.61166A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1139A>G MANE Select	ENSP00000353393.4:p.Asp380Gly
ENST00000647125.1:c.*1015A>G	ENSP00000496062.1:n.*1015A>G
ENST00000360256.8:c.1139A>G	ENSP00000353393.4:p.Asp380Gly
NM_000132.3:c.1139A>G	NP_000123.1:p.Asp380Gly
XM_011531126.1:c.1034A>G	XP_011529428.1:p.Asp345Gly
NM_000132.4:c.1139A>G MANE Select	NP_000123.1:p.Asp380Gly