Canonical Allele Identifier: CA421734046

Gene: F5

Linked Data

• dbSNP Id: rs1009603325
• gnomAD v2: 1-169524581-C-A
• MyVariant Identifiers: chr1:g.169524581C>A (hg19) ; chr1:g.169555343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555343C>A , CM000663.2:g.169555343C>A	GRCh38
NC_000001.10:g.169524581C>A , CM000663.1:g.169524581C>A	GRCh37
NC_000001.9:g.167791205C>A	NCBI36
NG_011806.1:g.36189G>T , LRG_553:g.36189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.957G>T MANE Select	ENSP00000356771.3:p.Gly319=
ENST00000367796.3:c.957G>T	ENSP00000356770.3:p.Gly319=
ENST00000367797.7:c.957G>T	ENSP00000356771.3:p.Gly319=
NM_000130.4:c.957G>T , LRG_553t1:c.957G>T	NP_000121.2:p.Gly319=
XM_017000660.2:c.546G>T	XP_016856149.1:p.Gly182=
NM_000130.5:c.957G>T MANE Select	NP_000121.2:p.Gly319=