Canonical Allele Identifier: CA343117892

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169510890G>T (hg19) ; chr1:g.169541652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541652G>T , CM000663.2:g.169541652G>T	GRCh38
NC_000001.10:g.169510890G>T , CM000663.1:g.169510890G>T	GRCh37
NC_000001.9:g.167777514G>T	NCBI36
NG_011806.1:g.49880C>A , LRG_553:g.49880C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3438C>A MANE Select	ENSP00000356771.3:p.His1146Gln
ENST00000367796.3:c.3453C>A	ENSP00000356770.3:p.His1151Gln
ENST00000367797.7:c.3438C>A	ENSP00000356771.3:p.His1146Gln
NM_000130.4:c.3438C>A , LRG_553t1:c.3438C>A	NP_000121.2:p.His1146Gln
XM_017000660.2:c.3027C>A	XP_016856149.1:p.His1009Gln
NM_000130.5:c.3438C>A MANE Select	NP_000121.2:p.His1146Gln