Canonical Allele Identifier: CA32436214

Gene: F5

Linked Data

• dbSNP Id: rs12040141
• gnomAD v2: 1-169501700-A-G
• gnomAD v3: 1-169532462-A-G
• gnomAD v4: 1-169532462-A-G
• MyVariant Identifiers: chr1:g.169501700A>G (hg19) ; chr1:g.169532462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169532462A>G , CM000663.2:g.169532462A>G	GRCh38
NC_000001.10:g.169501700A>G , CM000663.1:g.169501700A>G	GRCh37
NC_000001.9:g.167768324A>G	NCBI36
NG_011806.1:g.59070T>C , LRG_553:g.59070T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.4972-1440T>C MANE Select	ENSP00000356771.3:n.4972-1440T>C
ENST00000367796.3:c.4987-1440T>C	ENSP00000356770.3:n.4987-1440T>C
ENST00000367797.7:c.4972-1440T>C	ENSP00000356771.3:n.4972-1440T>C
NM_000130.4:c.4972-1440T>C , LRG_553t1:c.4972-1440T>C	NP_000121.2:n.4972-1440T>C
XM_017000660.2:c.4561-1440T>C	XP_016856149.1:n.4561-1440T>C
NM_000130.5:c.4972-1440T>C MANE Select	NP_000121.2:n.4972-1440T>C