Canonical Allele Identifier: CA519371869

Gene: F8

Linked Data

• dbSNP Id: rs1557284782
• gnomAD v2: X-154221221-T-C
• gnomAD v4: X-154992946-T-C
• MyVariant Identifiers: chrX:g.154221221T>C (hg19) ; chrX:g.154992946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154992946T>C , CM000685.2:g.154992946T>C	GRCh38
NC_000023.10:g.154221221T>C , CM000685.1:g.154221221T>C	GRCh37
NC_000023.9:g.153874415T>C	NCBI36
NG_011403.1:g.34778A>G
NG_011403.2:g.34778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.591A>G MANE Select	ENSP00000353393.4:p.Val197=
ENST00000647125.1:c.*377A>G	ENSP00000496062.1:n.*377A>G
ENST00000360256.8:c.591A>G	ENSP00000353393.4:p.Val197=
ENST00000423959.5:c.486A>G	ENSP00000409446.1:p.Val162=
NM_000132.3:c.591A>G	NP_000123.1:p.Val197=
XM_011531126.1:c.486A>G	XP_011529428.1:p.Val162=
NM_000132.4:c.591A>G MANE Select	NP_000123.1:p.Val197=