Canonical Allele Identifier: CA343131998

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169524531A>C (hg19) ; chr1:g.169555293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555293A>C , CM000663.2:g.169555293A>C	GRCh38
NC_000001.10:g.169524531A>C , CM000663.1:g.169524531A>C	GRCh37
NC_000001.9:g.167791155A>C	NCBI36
NG_011806.1:g.36239T>G , LRG_553:g.36239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1007T>G MANE Select	ENSP00000356771.3:p.Leu336Arg
ENST00000367796.3:c.1007T>G	ENSP00000356770.3:p.Leu336Arg
ENST00000367797.7:c.1007T>G	ENSP00000356771.3:p.Leu336Arg
NM_000130.4:c.1007T>G , LRG_553t1:c.1007T>G	NP_000121.2:p.Leu336Arg
XM_017000660.2:c.596T>G	XP_016856149.1:p.Leu199Arg
NM_000130.5:c.1007T>G MANE Select	NP_000121.2:p.Leu336Arg