Canonical Allele Identifier: CA421930472

Gene: F5

Linked Data

• dbSNP Id: rs373880789
• gnomAD v4: 1-169541688-G-A
• MyVariant Identifiers: chr1:g.169510926G>A (hg19) ; chr1:g.169541688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541688G>A , CM000663.2:g.169541688G>A	GRCh38
NC_000001.10:g.169510926G>A , CM000663.1:g.169510926G>A	GRCh37
NC_000001.9:g.167777550G>A	NCBI36
NG_011806.1:g.49844C>T , LRG_553:g.49844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3402C>T MANE Select	ENSP00000356771.3:p.Asp1134=
ENST00000367796.3:c.3417C>T	ENSP00000356770.3:p.Asp1139=
ENST00000367797.7:c.3402C>T	ENSP00000356771.3:p.Asp1134=
NM_000130.4:c.3402C>T , LRG_553t1:c.3402C>T	NP_000121.2:p.Asp1134=
XM_017000660.2:c.2991C>T	XP_016856149.1:p.Asp997=
NM_000130.5:c.3402C>T MANE Select	NP_000121.2:p.Asp1134=