Canonical Allele Identifier: CA414919954

Gene: F8

Linked Data

• dbSNP Id: rs1385343947
• gnomAD v4: X-154997014-C-A
• MyVariant Identifiers: chrX:g.154225289C>A (hg19) ; chrX:g.154997014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997014C>A , CM000685.2:g.154997014C>A	GRCh38
NC_000023.10:g.154225289C>A , CM000685.1:g.154225289C>A	GRCh37
NC_000023.9:g.153878483C>A	NCBI36
NG_011403.1:g.30710G>T
NG_011403.2:g.30710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.347G>T MANE Select	ENSP00000353393.4:p.Ser116Ile
ENST00000647125.1:c.*133G>T	ENSP00000496062.1:n.*133G>T
ENST00000360256.8:c.347G>T	ENSP00000353393.4:p.Ser116Ile
ENST00000423959.5:c.242G>T	ENSP00000409446.1:p.Ser81Ile
ENST00000453950.1:c.329G>T	ENSP00000389153.1:p.Ser110Ile
NM_000132.3:c.347G>T	NP_000123.1:p.Ser116Ile
XM_011531126.1:c.242G>T	XP_011529428.1:p.Ser81Ile
NM_000132.4:c.347G>T MANE Select	NP_000123.1:p.Ser116Ile