Canonical Allele Identifier: CA31469637

Gene: KCNJ10

Linked Data

• dbSNP Id: rs971753248
• gnomAD v4: 1-160041154-C-A
• MyVariant Identifiers: chr1:g.160010944C>A (hg19) ; chr1:g.160041154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041154C>A , CM000663.2:g.160041154C>A	GRCh38
NC_000001.10:g.160010944C>A , CM000663.1:g.160010944C>A	GRCh37
NC_000001.9:g.158277568C>A	NCBI36
NG_016411.1:g.34018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+680G>T
ENST00000636689.1:n.95-1806G>T
ENST00000637644.1:c.487+892G>T	ENSP00000490282.1:n.487+892G>T
ENST00000638728.1:c.*239G>T	ENSP00000492619.1:n.*239G>T
ENST00000638840.1:c.919+182G>T
ENST00000638868.1:c.*239G>T	ENSP00000491250.1:n.*239G>T
ENST00000639408.1:c.488-553G>T	ENSP00000491635.1:n.488-553G>T
ENST00000640017.1:c.670-553G>T	ENSP00000491337.1:n.670-553G>T
ENST00000640914.1:c.125-553G>T
ENST00000644903.1:c.*239G>T MANE Select	ENSP00000495557.1:n.*239G>T
ENST00000368089.3:c.*239G>T	ENSP00000357068.3:n.*239G>T
ENST00000509700.1:n.463-553G>T
NM_002241.4:c.*239G>T	NP_002232.2:n.*239G>T
NM_002241.5:c.*239G>T MANE Select	NP_002232.2:n.*239G>T