Canonical Allele Identifier: CA343119179

Gene: F5

Linked Data

• dbSNP Id: rs1659863565
• gnomAD v4: 1-169541944-T-C
• MyVariant Identifiers: chr1:g.169511182T>C (hg19) ; chr1:g.169541944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541944T>C , CM000663.2:g.169541944T>C	GRCh38
NC_000001.10:g.169511182T>C , CM000663.1:g.169511182T>C	GRCh37
NC_000001.9:g.167777806T>C	NCBI36
NG_011806.1:g.49588A>G , LRG_553:g.49588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3146A>G MANE Select	ENSP00000356771.3:p.His1049Arg
ENST00000367796.3:c.3161A>G	ENSP00000356770.3:p.His1054Arg
ENST00000367797.7:c.3146A>G	ENSP00000356771.3:p.His1049Arg
NM_000130.4:c.3146A>G , LRG_553t1:c.3146A>G	NP_000121.2:p.His1049Arg
XM_017000660.2:c.2735A>G	XP_016856149.1:p.His912Arg
NM_000130.5:c.3146A>G MANE Select	NP_000121.2:p.His1049Arg