Canonical Allele Identifier: CA343132226

Gene: F5

Linked Data

• ClinVar Variation Id: 2702927
• ClinVar RCV Id: RCV003596338
• MyVariant Identifiers: chr1:g.169524551G>T (hg19) ; chr1:g.169555313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555313G>T , CM000663.2:g.169555313G>T	GRCh38
NC_000001.10:g.169524551G>T , CM000663.1:g.169524551G>T	GRCh37
NC_000001.9:g.167791175G>T	NCBI36
NG_011806.1:g.36219C>A , LRG_553:g.36219C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.987C>A MANE Select	ENSP00000356771.3:p.Cys329Ter
ENST00000367796.3:c.987C>A	ENSP00000356770.3:p.Cys329Ter
ENST00000367797.7:c.987C>A	ENSP00000356771.3:p.Cys329Ter
NM_000130.4:c.987C>A , LRG_553t1:c.987C>A	NP_000121.2:p.Cys329Ter
XM_017000660.2:c.576C>A	XP_016856149.1:p.Cys192Ter
NM_000130.5:c.987C>A MANE Select	NP_000121.2:p.Cys329Ter