Canonical Allele Identifier: CA343130594

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169498979C>G (hg19) ; chr1:g.169529741C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169529741C>G , CM000663.2:g.169529741C>G	GRCh38
NC_000001.10:g.169498979C>G , CM000663.1:g.169498979C>G	GRCh37
NC_000001.9:g.167765603C>G	NCBI36
NG_011806.1:g.61791G>C , LRG_553:g.61791G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5286G>C MANE Select	ENSP00000356771.3:p.Met1762Ile
ENST00000367796.3:c.5301G>C	ENSP00000356770.3:p.Met1767Ile
ENST00000367797.7:c.5286G>C	ENSP00000356771.3:p.Met1762Ile
NM_000130.4:c.5286G>C , LRG_553t1:c.5286G>C	NP_000121.2:p.Met1762Ile
XM_017000660.2:c.4875G>C	XP_016856149.1:p.Met1625Ile
NM_000130.5:c.5286G>C MANE Select	NP_000121.2:p.Met1762Ile