Canonical Allele Identifier: CA10607917

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293110
• ClinVar RCV Id: RCV000271396 ; RCV000368205
• dbSNP Id: rs886045410
• gnomAD v4: 1-160040664-C-G
• MyVariant Identifiers: chr1:g.160010454C>G (hg19) ; chr1:g.160040664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160040664C>G , CM000663.2:g.160040664C>G	GRCh38
NC_000001.10:g.160010454C>G , CM000663.1:g.160010454C>G	GRCh37
NC_000001.9:g.158277078C>G	NCBI36
NG_016411.1:g.34508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+1170G>C
ENST00000636689.1:n.95-1316G>C
ENST00000637644.1:c.487+1382G>C	ENSP00000490282.1:n.487+1382G>C
ENST00000638728.1:c.*729G>C	ENSP00000492619.1:n.*729G>C
ENST00000638840.1:c.920-63G>C
ENST00000638868.1:c.*729G>C	ENSP00000491250.1:n.*729G>C
ENST00000639408.1:c.488-63G>C	ENSP00000491635.1:n.488-63G>C
ENST00000640017.1:c.670-63G>C	ENSP00000491337.1:n.670-63G>C
ENST00000640914.1:c.125-63G>C
ENST00000644903.1:c.*729G>C MANE Select	ENSP00000495557.1:n.*729G>C
ENST00000368089.3:c.*729G>C	ENSP00000357068.3:n.*729G>C
ENST00000509700.1:n.463-63G>C
NM_002241.4:c.*729G>C	NP_002232.2:n.*729G>C
NM_002241.5:c.*729G>C MANE Select	NP_002232.2:n.*729G>C