Canonical Allele Identifier: CA337118622

Gene: F8

Linked Data

• dbSNP Id: rs28370194
• gnomAD v2: X-154250552-C-T
• gnomAD v3: X-155022277-C-T
• gnomAD v4: X-155022277-C-T
• MyVariant Identifiers: chrX:g.154250552C>T (hg19) ; chrX:g.155022277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022277C>T , CM000685.2:g.155022277C>T	GRCh38
NC_000023.10:g.154250552C>T , CM000685.1:g.154250552C>T	GRCh37
NC_000023.9:g.153903746C>T	NCBI36
NG_011403.1:g.5447G>A
NG_011403.2:g.5447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.143+133G>A MANE Select	ENSP00000353393.4:n.143+133G>A
ENST00000647125.1:c.121+155G>A	ENSP00000496062.1:n.121+155G>A
ENST00000360256.8:c.143+133G>A	ENSP00000353393.4:n.143+133G>A
ENST00000423959.5:c.38+4503G>A	ENSP00000409446.1:n.38+4503G>A
ENST00000453950.1:c.125+133G>A	ENSP00000389153.1:n.125+133G>A
NM_000132.3:c.143+133G>A	NP_000123.1:n.143+133G>A
XM_011531126.1:c.38+4503G>A	XP_011529428.1:n.38+4503G>A
NM_000132.4:c.143+133G>A MANE Select	NP_000123.1:n.143+133G>A