Canonical Allele Identifier: CA1234452

Gene: F5

Linked Data

• ClinVar Variation Id: 874623
• ClinVar RCV Id: RCV001097727 ; RCV001099511 ; RCV001099510 ; RCV003763811
• dbSNP Id: rs200532195
• ExAC: 1:169524517 G / A
• gnomAD v2: 1-169524517-G-A
• gnomAD v3: 1-169555279-G-A
• gnomAD v4: 1-169555279-G-A
• COSMIC: COSM899297
• MyVariant Identifiers: chr1:g.169524517G>A (hg19) ; chr1:g.169555279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555279G>A , CM000663.2:g.169555279G>A	GRCh38
NC_000001.10:g.169524517G>A , CM000663.1:g.169524517G>A	GRCh37
NC_000001.9:g.167791141G>A	NCBI36
NG_011806.1:g.36253C>T , LRG_553:g.36253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1021C>T MANE Select	ENSP00000356771.3:p.Arg341Cys
ENST00000367796.3:c.1021C>T	ENSP00000356770.3:p.Arg341Cys
ENST00000367797.7:c.1021C>T	ENSP00000356771.3:p.Arg341Cys
NM_000130.4:c.1021C>T , LRG_553t1:c.1021C>T	NP_000121.2:p.Arg341Cys
XM_017000660.2:c.610C>T	XP_016856149.1:p.Arg204Cys
NM_000130.5:c.1021C>T MANE Select	NP_000121.2:p.Arg341Cys