Canonical Allele Identifier: CA343118348

Gene: F5

Linked Data

• gnomAD v4: 1-169541733-C-G
• MyVariant Identifiers: chr1:g.169510971C>G (hg19) ; chr1:g.169541733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541733C>G , CM000663.2:g.169541733C>G	GRCh38
NC_000001.10:g.169510971C>G , CM000663.1:g.169510971C>G	GRCh37
NC_000001.9:g.167777595C>G	NCBI36
NG_011806.1:g.49799G>C , LRG_553:g.49799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3357G>C MANE Select	ENSP00000356771.3:p.Gln1119His
ENST00000367796.3:c.3372G>C	ENSP00000356770.3:p.Gln1124His
ENST00000367797.7:c.3357G>C	ENSP00000356771.3:p.Gln1119His
NM_000130.4:c.3357G>C , LRG_553t1:c.3357G>C	NP_000121.2:p.Gln1119His
XM_017000660.2:c.2946G>C	XP_016856149.1:p.Gln982His
NM_000130.5:c.3357G>C MANE Select	NP_000121.2:p.Gln1119His