Canonical Allele Identifier: CA343131011

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169499019A>G (hg19) ; chr1:g.169529781A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169529781A>G , CM000663.2:g.169529781A>G	GRCh38
NC_000001.10:g.169499019A>G , CM000663.1:g.169499019A>G	GRCh37
NC_000001.9:g.167765643A>G	NCBI36
NG_011806.1:g.61751T>C , LRG_553:g.61751T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.5246T>C MANE Select	ENSP00000356771.3:p.Leu1749Pro
ENST00000367796.3:c.5261T>C	ENSP00000356770.3:p.Leu1754Pro
ENST00000367797.7:c.5246T>C	ENSP00000356771.3:p.Leu1749Pro
NM_000130.4:c.5246T>C , LRG_553t1:c.5246T>C	NP_000121.2:p.Leu1749Pro
XM_017000660.2:c.4835T>C	XP_016856149.1:p.Leu1612Pro
NM_000130.5:c.5246T>C MANE Select	NP_000121.2:p.Leu1749Pro