Canonical Allele Identifier: CA16042626

Gene: KCNK9

Linked Data

• ClinVar Variation Id: 372887
• ClinVar RCV Id: RCV000413977 ; RCV000679851 ; RCV001266147
• dbSNP Id: rs867543866
• MyVariant Identifiers: chr8:g.140631234C>T (hg19) ; chr8:g.139618991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.139618991C>T , CM000670.2:g.139618991C>T	GRCh38
NC_000008.10:g.140631234C>T , CM000670.1:g.140631234C>T	GRCh37
NC_000008.9:g.140700416C>T	NCBI36
NG_012842.2:g.89066G>A
NG_012842.3:g.89066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520439.3:c.392G>A MANE Select	ENSP00000430676.1:p.Arg131His
ENST00000523477.2:n.216G>A
ENST00000647605.1:c.140G>A	ENSP00000497893.1:p.Arg47His
ENST00000648164.1:c.392G>A	ENSP00000498198.1:p.Arg131His
ENST00000648481.1:n.253G>A
ENST00000649473.1:c.356G>A	ENSP00000498160.1:p.Arg119His
ENST00000649696.1:c.140G>A	ENSP00000497127.1:p.Arg47His
ENST00000650269.1:c.392G>A	ENSP00000496915.1:p.Arg131His
ENST00000303015.2:c.392G>A	ENSP00000302166.1:p.Arg131His
ENST00000520439.1:c.392G>A	ENSP00000430676.1:p.Arg131His
ENST00000522317.5:c.392G>A	ENSP00000429847.1:p.Arg131His
NM_001282534.1:c.392G>A	NP_001269463.1:p.Arg131His
NR_104210.1:n.456G>A
XM_011517101.1:c.392G>A	XP_011515403.1:p.Arg131His
XM_011517102.1:c.392G>A	XP_011515404.1:p.Arg131His
XM_011517103.1:c.62G>A	XP_011515405.1:p.Arg21His
XM_011517101.2:c.392G>A	XP_011515403.1:p.Arg131His
XM_011517102.2:c.392G>A	XP_011515404.1:p.Arg131His
XM_011517103.2:c.62G>A	XP_011515405.1:p.Arg21His
XM_017013530.1:c.62G>A	XP_016869019.1:p.Arg21His
XM_017013531.1:c.62G>A	XP_016869020.1:p.Arg21His
NM_001282534.2:c.392G>A MANE Select	NP_001269463.1:p.Arg131His
NR_104210.2:n.523G>A