Canonical Allele Identifier: CA890089756

Gene: KCNJ10

Linked Data

• dbSNP Id: rs1229005775
• gnomAD v4: 1-160041140-C-A
• MyVariant Identifiers: chr1:g.160010930C>A (hg19) ; chr1:g.160041140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041140C>A , CM000663.2:g.160041140C>A	GRCh38
NC_000001.10:g.160010930C>A , CM000663.1:g.160010930C>A	GRCh37
NC_000001.9:g.158277554C>A	NCBI36
NG_016411.1:g.34032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+694G>T
ENST00000636689.1:n.95-1792G>T
ENST00000637644.1:c.487+906G>T	ENSP00000490282.1:n.487+906G>T
ENST00000638728.1:c.*253G>T	ENSP00000492619.1:n.*253G>T
ENST00000638840.1:c.919+196G>T
ENST00000638868.1:c.*253G>T	ENSP00000491250.1:n.*253G>T
ENST00000639408.1:c.488-539G>T	ENSP00000491635.1:n.488-539G>T
ENST00000640017.1:c.670-539G>T	ENSP00000491337.1:n.670-539G>T
ENST00000640914.1:c.125-539G>T
ENST00000644903.1:c.*253G>T MANE Select	ENSP00000495557.1:n.*253G>T
ENST00000368089.3:c.*253G>T	ENSP00000357068.3:n.*253G>T
ENST00000509700.1:n.463-539G>T
NM_002241.4:c.*253G>T	NP_002232.2:n.*253G>T
NM_002241.5:c.*253G>T MANE Select	NP_002232.2:n.*253G>T