Canonical Allele Identifier: CA343128595

Gene: F5

Linked Data

• dbSNP Id: rs1190514322
• MyVariant Identifiers: chr1:g.169521887C>T (hg19) ; chr1:g.169552649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552649C>T , CM000663.2:g.169552649C>T	GRCh38
NC_000001.10:g.169521887C>T , CM000663.1:g.169521887C>T	GRCh37
NC_000001.9:g.167788511C>T	NCBI36
NG_011806.1:g.38883G>A , LRG_553:g.38883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1204G>A MANE Select	ENSP00000356771.3:p.Glu402Lys
ENST00000367796.3:c.1204G>A	ENSP00000356770.3:p.Glu402Lys
ENST00000367797.7:c.1204G>A	ENSP00000356771.3:p.Glu402Lys
NM_000130.4:c.1204G>A , LRG_553t1:c.1204G>A	NP_000121.2:p.Glu402Lys
XM_017000660.2:c.793G>A	XP_016856149.1:p.Glu265Lys
NM_000130.5:c.1204G>A MANE Select	NP_000121.2:p.Glu402Lys