Canonical Allele Identifier: CA645246743

Gene: F8

Linked Data

• dbSNP Id: rs1557284823
• gnomAD v2: X-154221446-T-A
• gnomAD v4: X-154993171-T-A
• MyVariant Identifiers: chrX:g.154221446T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993171T>A , CM000685.2:g.154993171T>A	GRCh38
NC_000023.10:g.154221446T>A , CM000685.1:g.154221446T>A	GRCh37
NC_000023.9:g.153874640T>A	NCBI36
NG_011403.1:g.34553A>T
NG_011403.2:g.34553A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.389-23A>T MANE Select	ENSP00000353393.4:n.389-23A>T
ENST00000647125.1:c.*175-23A>T	ENSP00000496062.1:n.*175-23A>T
ENST00000360256.8:c.389-23A>T	ENSP00000353393.4:n.389-23A>T
ENST00000423959.5:c.284-23A>T	ENSP00000409446.1:n.284-23A>T
ENST00000453950.1:c.371-23A>T	ENSP00000389153.1:n.371-23A>T
NM_000132.3:c.389-23A>T	NP_000123.1:n.389-23A>T
XM_011531126.1:c.284-23A>T	XP_011529428.1:n.284-23A>T
NM_000132.4:c.389-23A>T MANE Select	NP_000123.1:n.389-23A>T