Canonical Allele Identifier: CA343118769

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169511060C>G (hg19) ; chr1:g.169541822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541822C>G , CM000663.2:g.169541822C>G	GRCh38
NC_000001.10:g.169511060C>G , CM000663.1:g.169511060C>G	GRCh37
NC_000001.9:g.167777684C>G	NCBI36
NG_011806.1:g.49710G>C , LRG_553:g.49710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3268G>C MANE Select	ENSP00000356771.3:p.Asp1090His
ENST00000367796.3:c.3283G>C	ENSP00000356770.3:p.Asp1095His
ENST00000367797.7:c.3268G>C	ENSP00000356771.3:p.Asp1090His
NM_000130.4:c.3268G>C , LRG_553t1:c.3268G>C	NP_000121.2:p.Asp1090His
XM_017000660.2:c.2857G>C	XP_016856149.1:p.Asp953His
NM_000130.5:c.3268G>C MANE Select	NP_000121.2:p.Asp1090His