Canonical Allele Identifier: CA343118240

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169510952G>C (hg19) ; chr1:g.169541714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541714G>C , CM000663.2:g.169541714G>C	GRCh38
NC_000001.10:g.169510952G>C , CM000663.1:g.169510952G>C	GRCh37
NC_000001.9:g.167777576G>C	NCBI36
NG_011806.1:g.49818C>G , LRG_553:g.49818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3376C>G MANE Select	ENSP00000356771.3:p.His1126Asp
ENST00000367796.3:c.3391C>G	ENSP00000356770.3:p.His1131Asp
ENST00000367797.7:c.3376C>G	ENSP00000356771.3:p.His1126Asp
NM_000130.4:c.3376C>G , LRG_553t1:c.3376C>G	NP_000121.2:p.His1126Asp
XM_017000660.2:c.2965C>G	XP_016856149.1:p.His989Asp
NM_000130.5:c.3376C>G MANE Select	NP_000121.2:p.His1126Asp