Canonical Allele Identifier: CA255022

Gene: F8

Linked Data

• ClinVar Variation Id: 10115
• ClinVar RCV Id: RCV000010828 ; RCV002508187
• dbSNP Id: rs28935203
• gnomAD v2: X-154156969-T-A
• gnomAD v4: X-154928694-T-A
• MyVariant Identifiers: chrX:g.154156969T>A (hg19) ; chrX:g.154928694T>A (hg38)
• PubMed: PMID:2105906

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154928694T>A , CM000685.2:g.154928694T>A	GRCh38
NC_000023.10:g.154156969T>A , CM000685.1:g.154156969T>A	GRCh37
NC_000023.9:g.153810163T>A	NCBI36
NG_011403.1:g.99030A>T
NG_011403.2:g.99030A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5096A>T MANE Select	ENSP00000353393.4:p.Tyr1699Phe
ENST00000360256.8:c.5096A>T	ENSP00000353393.4:p.Tyr1699Phe
NM_000132.3:c.5096A>T	NP_000123.1:p.Tyr1699Phe
XM_011531126.1:c.4991A>T	XP_011529428.1:p.Tyr1664Phe
NM_000132.4:c.5096A>T MANE Select	NP_000123.1:p.Tyr1699Phe