Canonical Allele Identifier: CA645246767

Gene: F8

Linked Data

• dbSNP Id: rs1179441377
• gnomAD v2: X-154221808-C-T
• gnomAD v3: X-154993533-C-T
• gnomAD v4: X-154993533-C-T
• MyVariant Identifiers: chrX:g.154221808C>T (hg19) ; chrX:g.154993533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993533C>T , CM000685.2:g.154993533C>T	GRCh38
NC_000023.10:g.154221808C>T , CM000685.1:g.154221808C>T	GRCh37
NC_000023.9:g.153875002C>T	NCBI36
NG_011403.1:g.34191G>A
NG_011403.2:g.34191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.389-385G>A MANE Select	ENSP00000353393.4:n.389-385G>A
ENST00000647125.1:c.*175-385G>A	ENSP00000496062.1:n.*175-385G>A
ENST00000360256.8:c.389-385G>A	ENSP00000353393.4:n.389-385G>A
ENST00000423959.5:c.284-385G>A	ENSP00000409446.1:n.284-385G>A
ENST00000453950.1:c.371-385G>A	ENSP00000389153.1:n.371-385G>A
NM_000132.3:c.389-385G>A	NP_000123.1:n.389-385G>A
XM_011531126.1:c.284-385G>A	XP_011529428.1:n.284-385G>A
NM_000132.4:c.389-385G>A MANE Select	NP_000123.1:n.389-385G>A