Canonical Allele Identifier: CA343223060

Gene: KCNJ10

Linked Data

• gnomAD v4: 1-160041548-G-C
• MyVariant Identifiers: chr1:g.160011338G>C (hg19) ; chr1:g.160041548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041548G>C , CM000663.2:g.160041548G>C	GRCh38
NC_000001.10:g.160011338G>C , CM000663.1:g.160011338G>C	GRCh37
NC_000001.9:g.158277962G>C	NCBI36
NG_016411.1:g.33624C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+286C>G
ENST00000636689.1:n.95-2200C>G
ENST00000637644.1:c.487+498C>G	ENSP00000490282.1:n.487+498C>G
ENST00000638728.1:c.985C>G	ENSP00000492619.1:p.Leu329Val
ENST00000638840.1:c.707C>G
ENST00000638868.1:c.985C>G	ENSP00000491250.1:p.Leu329Val
ENST00000639408.1:c.487+498C>G	ENSP00000491635.1:n.487+498C>G
ENST00000640017.1:c.669+286C>G	ENSP00000491337.1:n.669+286C>G
ENST00000640914.1:c.124+286C>G
ENST00000644903.1:c.985C>G MANE Select	ENSP00000495557.1:p.Leu329Val
ENST00000368089.3:c.985C>G	ENSP00000357068.3:p.Leu329Val
ENST00000509700.1:n.462+286C>G
NM_002241.4:c.985C>G	NP_002232.2:p.Leu329Val
NM_002241.5:c.985C>G MANE Select	NP_002232.2:p.Leu329Val