Canonical Allele Identifier: CA10608373

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293072
• ClinVar RCV Id: RCV000283745 ; RCV000378319
• dbSNP Id: rs79012831
• gnomAD v2: 1-160007677-G-A
• gnomAD v3: 1-160037887-G-A
• gnomAD v4: 1-160037887-G-A
• MyVariant Identifiers: chr1:g.160007677G>A (hg19) ; chr1:g.160037887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160037887G>A , CM000663.2:g.160037887G>A	GRCh38
NC_000001.10:g.160007677G>A , CM000663.1:g.160007677G>A	GRCh37
NC_000001.9:g.158274301G>A	NCBI36
NG_016411.1:g.37285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+3947C>T
ENST00000637644.1:c.487+4159C>T	ENSP00000490282.1:n.487+4159C>T
ENST00000639408.1:c.587+2615C>T	ENSP00000491635.1:n.587+2615C>T
ENST00000640914.1:c.224+2615C>T
ENST00000644903.1:c.*3506C>T MANE Select	ENSP00000495557.1:n.*3506C>T
ENST00000368089.3:c.*3506C>T	ENSP00000357068.3:n.*3506C>T
NM_002241.4:c.*3506C>T	NP_002232.2:n.*3506C>T
NM_002241.5:c.*3506C>T MANE Select	NP_002232.2:n.*3506C>T