Canonical Allele Identifier: CA343118022

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169510919G>A (hg19) ; chr1:g.169541681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541681G>A , CM000663.2:g.169541681G>A	GRCh38
NC_000001.10:g.169510919G>A , CM000663.1:g.169510919G>A	GRCh37
NC_000001.9:g.167777543G>A	NCBI36
NG_011806.1:g.49851C>T , LRG_553:g.49851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3409C>T MANE Select	ENSP00000356771.3:p.Gln1137Ter
ENST00000367796.3:c.3424C>T	ENSP00000356770.3:p.Gln1142Ter
ENST00000367797.7:c.3409C>T	ENSP00000356771.3:p.Gln1137Ter
NM_000130.4:c.3409C>T , LRG_553t1:c.3409C>T	NP_000121.2:p.Gln1137Ter
XM_017000660.2:c.2998C>T	XP_016856149.1:p.Gln1000Ter
NM_000130.5:c.3409C>T MANE Select	NP_000121.2:p.Gln1137Ter