Canonical Allele Identifier: CA343130941

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169499009T>A (hg19) ; chr1:g.169529771T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169529771T>A , CM000663.2:g.169529771T>A	GRCh38
NC_000001.10:g.169499009T>A , CM000663.1:g.169499009T>A	GRCh37
NC_000001.9:g.167765633T>A	NCBI36
NG_011806.1:g.61761A>T , LRG_553:g.61761A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.5256A>T MANE Select	ENSP00000356771.3:p.Gln1752His
ENST00000367796.3:c.5271A>T	ENSP00000356770.3:p.Gln1757His
ENST00000367797.7:c.5256A>T	ENSP00000356771.3:p.Gln1752His
NM_000130.4:c.5256A>T , LRG_553t1:c.5256A>T	NP_000121.2:p.Gln1752His
XM_017000660.2:c.4845A>T	XP_016856149.1:p.Gln1615His
NM_000130.5:c.5256A>T MANE Select	NP_000121.2:p.Gln1752His