Canonical Allele Identifier: CA315257

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 205815
• ClinVar RCV Id: RCV000187803 ; RCV000281707 ; RCV001085271 ; RCV000727390 ; RCV002381629 ; RCV004539742
• dbSNP Id: rs146426296
• ExAC: 1:160011588 G / C
• gnomAD v2: 1-160011588-G-C
• gnomAD v3: 1-160041798-G-C
• gnomAD v4: 1-160041798-G-C
• MyVariant Identifiers: chr1:g.160011588G>C (hg19) ; chr1:g.160041798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041798G>C , CM000663.2:g.160041798G>C	GRCh38
NC_000001.10:g.160011588G>C , CM000663.1:g.160011588G>C	GRCh37
NC_000001.9:g.158278212G>C	NCBI36
NG_016411.1:g.33374C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+36C>G
ENST00000636689.1:n.95-2450C>G
ENST00000637644.1:c.487+248C>G	ENSP00000490282.1:n.487+248C>G
ENST00000638728.1:c.735C>G	ENSP00000492619.1:p.Asp245Glu
ENST00000638840.1:c.457C>G
ENST00000638868.1:c.735C>G	ENSP00000491250.1:p.Asp245Glu
ENST00000639408.1:c.487+248C>G	ENSP00000491635.1:n.487+248C>G
ENST00000640017.1:c.669+36C>G	ENSP00000491337.1:n.669+36C>G
ENST00000640914.1:c.124+36C>G
ENST00000644903.1:c.735C>G MANE Select	ENSP00000495557.1:p.Asp245Glu
ENST00000368089.3:c.735C>G	ENSP00000357068.3:p.Asp245Glu
ENST00000509700.1:n.462+36C>G
NM_002241.4:c.735C>G	NP_002232.2:p.Asp245Glu
NM_002241.5:c.735C>G MANE Select	NP_002232.2:p.Asp245Glu