Canonical Allele Identifier: CA343124911

Gene: F5

Linked Data

• gnomAD v4: 1-169525955-C-T
• MyVariant Identifiers: chr1:g.169495193C>T (hg19) ; chr1:g.169525955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169525955C>T , CM000663.2:g.169525955C>T	GRCh38
NC_000001.10:g.169495193C>T , CM000663.1:g.169495193C>T	GRCh37
NC_000001.9:g.167761817C>T	NCBI36
NG_011806.1:g.65577G>A , LRG_553:g.65577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5662G>A MANE Select	ENSP00000356771.3:p.Val1888Ile
ENST00000367796.3:c.5677G>A	ENSP00000356770.3:p.Val1893Ile
ENST00000367797.7:c.5662G>A	ENSP00000356771.3:p.Val1888Ile
NM_000130.4:c.5662G>A , LRG_553t1:c.5662G>A	NP_000121.2:p.Val1888Ile
XM_017000660.2:c.5251G>A	XP_016856149.1:p.Val1751Ile
NM_000130.5:c.5662G>A MANE Select	NP_000121.2:p.Val1888Ile