Canonical Allele Identifier: CA2579753333

Gene: F8

Linked Data

• dbSNP Id: rs2124174704
• gnomAD v4: X-155022700-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022700C>A , CM000685.2:g.155022700C>A	GRCh38
NC_000023.10:g.154250975C>A , CM000685.1:g.154250975C>A	GRCh37
NC_000023.9:g.153904169C>A	NCBI36
NG_011403.1:g.5024G>T
NG_011403.2:g.5024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.-148G>T MANE Select	ENSP00000353393.4:n.-148G>T
ENST00000647125.1:c.-148G>T	ENSP00000496062.1:n.-148G>T
ENST00000360256.8:c.-148G>T	ENSP00000353393.4:n.-148G>T
ENST00000423959.5:c.38+4080G>T	ENSP00000409446.1:n.38+4080G>T
ENST00000453950.1:c.39-204G>T	ENSP00000389153.1:n.39-204G>T
NM_000132.3:c.-148G>T	NP_000123.1:n.-148G>T
XM_011531126.1:c.38+4080G>T	XP_011529428.1:n.38+4080G>T
NM_000132.4:c.-148G>T MANE Select	NP_000123.1:n.-148G>T