Canonical Allele Identifier: CA343222658

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 845861
• ClinVar RCV Id: RCV001049019
• dbSNP Id: rs1034857467
• MyVariant Identifiers: chr1:g.160011311A>C (hg19) ; chr1:g.160041521A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041521A>C , CM000663.2:g.160041521A>C	GRCh38
NC_000001.10:g.160011311A>C , CM000663.1:g.160011311A>C	GRCh37
NC_000001.9:g.158277935A>C	NCBI36
NG_016411.1:g.33651T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+313T>G
ENST00000636689.1:n.95-2173T>G
ENST00000637644.1:c.487+525T>G	ENSP00000490282.1:n.487+525T>G
ENST00000638728.1:c.1012T>G	ENSP00000492619.1:p.Ser338Ala
ENST00000638840.1:c.734T>G
ENST00000638868.1:c.1012T>G	ENSP00000491250.1:p.Ser338Ala
ENST00000639408.1:c.487+525T>G	ENSP00000491635.1:n.487+525T>G
ENST00000640017.1:c.669+313T>G	ENSP00000491337.1:n.669+313T>G
ENST00000640914.1:c.124+313T>G
ENST00000644903.1:c.1012T>G MANE Select	ENSP00000495557.1:p.Ser338Ala
ENST00000368089.3:c.1012T>G	ENSP00000357068.3:p.Ser338Ala
ENST00000509700.1:n.462+313T>G
NM_002241.4:c.1012T>G	NP_002232.2:p.Ser338Ala
NM_002241.5:c.1012T>G MANE Select	NP_002232.2:p.Ser338Ala