Canonical Allele Identifier: CA32436195

Gene: F5

Linked Data

• dbSNP Id: rs992592749
• gnomAD v3: 1-169532367-G-T
• gnomAD v4: 1-169532367-G-T
• MyVariant Identifiers: chr1:g.169501605G>T (hg19) ; chr1:g.169532367G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169532367G>T , CM000663.2:g.169532367G>T	GRCh38
NC_000001.10:g.169501605G>T , CM000663.1:g.169501605G>T	GRCh37
NC_000001.9:g.167768229G>T	NCBI36
NG_011806.1:g.59165C>A , LRG_553:g.59165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.4972-1345C>A MANE Select	ENSP00000356771.3:n.4972-1345C>A
ENST00000367796.3:c.4987-1345C>A	ENSP00000356770.3:n.4987-1345C>A
ENST00000367797.7:c.4972-1345C>A	ENSP00000356771.3:n.4972-1345C>A
NM_000130.4:c.4972-1345C>A , LRG_553t1:c.4972-1345C>A	NP_000121.2:n.4972-1345C>A
XM_017000660.2:c.4561-1345C>A	XP_016856149.1:n.4561-1345C>A
NM_000130.5:c.4972-1345C>A MANE Select	NP_000121.2:n.4972-1345C>A