Canonical Allele Identifier: CA1193287

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 282077
• ClinVar RCV Id: RCV000646753 ; RCV000725019 ; RCV001097718 ; RCV002494819 ; RCV003224249
• dbSNP Id: rs773510302
• ExAC: 1:160012175 G / A
• gnomAD v2: 1-160012175-G-A
• gnomAD v3: 1-160042385-G-A
• gnomAD v4: 1-160042385-G-A
• MyVariant Identifiers: chr1:g.160012175G>A (hg19) ; chr1:g.160042385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042385G>A , CM000663.2:g.160042385G>A	GRCh38
NC_000001.10:g.160012175G>A , CM000663.1:g.160012175G>A	GRCh37
NC_000001.9:g.158278799G>A	NCBI36
NG_016411.1:g.32787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.120C>T
ENST00000636689.1:n.95-3037C>T
ENST00000637644.1:c.148C>T	ENSP00000490282.1:p.Leu50Phe
ENST00000638728.1:c.148C>T	ENSP00000492619.1:p.Leu50Phe
ENST00000638868.1:c.148C>T	ENSP00000491250.1:p.Leu50Phe
ENST00000639408.1:c.148C>T	ENSP00000491635.1:p.Leu50Phe
ENST00000640017.1:c.118C>T	ENSP00000491337.1:p.Leu40Phe
ENST00000644903.1:c.148C>T MANE Select	ENSP00000495557.1:p.Leu50Phe
ENST00000368089.3:c.148C>T	ENSP00000357068.3:p.Leu50Phe
NM_002241.4:c.148C>T	NP_002232.2:p.Leu50Phe
NM_002241.5:c.148C>T MANE Select	NP_002232.2:p.Leu50Phe