Canonical Allele Identifier: CA343124937

Gene: F5

Linked Data

• gnomAD v4: 1-169525960-G-A
• MyVariant Identifiers: chr1:g.169495198G>A (hg19) ; chr1:g.169525960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169525960G>A , CM000663.2:g.169525960G>A	GRCh38
NC_000001.10:g.169495198G>A , CM000663.1:g.169495198G>A	GRCh37
NC_000001.9:g.167761822G>A	NCBI36
NG_011806.1:g.65572C>T , LRG_553:g.65572C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5657C>T MANE Select	ENSP00000356771.3:p.Thr1886Ile
ENST00000367796.3:c.5672C>T	ENSP00000356770.3:p.Thr1891Ile
ENST00000367797.7:c.5657C>T	ENSP00000356771.3:p.Thr1886Ile
NM_000130.4:c.5657C>T , LRG_553t1:c.5657C>T	NP_000121.2:p.Thr1886Ile
XM_017000660.2:c.5246C>T	XP_016856149.1:p.Thr1749Ile
NM_000130.5:c.5657C>T MANE Select	NP_000121.2:p.Thr1886Ile