Canonical Allele Identifier: CA10608373
Gene: KCNJ10 HGNC NCBI

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)
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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
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