Canonical Allele Identifier: CA343117975

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169510911G>T (hg19) ; chr1:g.169541673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541673G>T , CM000663.2:g.169541673G>T	GRCh38
NC_000001.10:g.169510911G>T , CM000663.1:g.169510911G>T	GRCh37
NC_000001.9:g.167777535G>T	NCBI36
NG_011806.1:g.49859C>A , LRG_553:g.49859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3417C>A MANE Select	ENSP00000356771.3:p.His1139Gln
ENST00000367796.3:c.3432C>A	ENSP00000356770.3:p.His1144Gln
ENST00000367797.7:c.3417C>A	ENSP00000356771.3:p.His1139Gln
NM_000130.4:c.3417C>A , LRG_553t1:c.3417C>A	NP_000121.2:p.His1139Gln
XM_017000660.2:c.3006C>A	XP_016856149.1:p.His1002Gln
NM_000130.5:c.3417C>A MANE Select	NP_000121.2:p.His1139Gln