Canonical Allele Identifier: CA1233936

Gene: F5

Linked Data

• dbSNP Id: rs754378944
• ExAC: 1:169511057 A / T
• gnomAD v2: 1-169511057-A-T
• MyVariant Identifiers: chr1:g.169511057A>T (hg19) ; chr1:g.169541819A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541819A>T , CM000663.2:g.169541819A>T	GRCh38
NC_000001.10:g.169511057A>T , CM000663.1:g.169511057A>T	GRCh37
NC_000001.9:g.167777681A>T	NCBI36
NG_011806.1:g.49713T>A , LRG_553:g.49713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3271T>A MANE Select	ENSP00000356771.3:p.Phe1091Ile
ENST00000367796.3:c.3286T>A	ENSP00000356770.3:p.Phe1096Ile
ENST00000367797.7:c.3271T>A	ENSP00000356771.3:p.Phe1091Ile
NM_000130.4:c.3271T>A , LRG_553t1:c.3271T>A	NP_000121.2:p.Phe1091Ile
XM_017000660.2:c.2860T>A	XP_016856149.1:p.Phe954Ile
NM_000130.5:c.3271T>A MANE Select	NP_000121.2:p.Phe1091Ile