Canonical Allele Identifier: CA343222811

Gene: KCNJ10

Linked Data

• dbSNP Id: rs1648606564
• gnomAD v4: 1-160041530-T-C
• MyVariant Identifiers: chr1:g.160011320T>C (hg19) ; chr1:g.160041530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041530T>C , CM000663.2:g.160041530T>C	GRCh38
NC_000001.10:g.160011320T>C , CM000663.1:g.160011320T>C	GRCh37
NC_000001.9:g.158277944T>C	NCBI36
NG_016411.1:g.33642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+304A>G
ENST00000636689.1:n.95-2182A>G
ENST00000637644.1:c.487+516A>G	ENSP00000490282.1:n.487+516A>G
ENST00000638728.1:c.1003A>G	ENSP00000492619.1:p.Lys335Glu
ENST00000638840.1:c.725A>G
ENST00000638868.1:c.1003A>G	ENSP00000491250.1:p.Lys335Glu
ENST00000639408.1:c.487+516A>G	ENSP00000491635.1:n.487+516A>G
ENST00000640017.1:c.669+304A>G	ENSP00000491337.1:n.669+304A>G
ENST00000640914.1:c.124+304A>G
ENST00000644903.1:c.1003A>G MANE Select	ENSP00000495557.1:p.Lys335Glu
ENST00000368089.3:c.1003A>G	ENSP00000357068.3:p.Lys335Glu
ENST00000509700.1:n.462+304A>G
NM_002241.4:c.1003A>G	NP_002232.2:p.Lys335Glu
NM_002241.5:c.1003A>G MANE Select	NP_002232.2:p.Lys335Glu