Canonical Allele Identifier: CA215050
Gene: KCNH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162523
ClinVar RCV Id: RCV000149913
dbSNP Id: rs727502822

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.211019164C>G , CM000663.2:g.211019164C>G GRCh38
NC_000001.10:g.211192506C>G , CM000663.1:g.211192506C>G GRCh37
NC_000001.9:g.209259129C>G NCBI36
NG_029777.1:g.119952G>C
NG_029777.2:g.119952G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000271751.10:c.651G>C MANE Select ENSP00000271751.4:p.Lys217Asn
ENST00000367007.5:c.651G>C ENSP00000355974.5:p.Lys217Asn
ENST00000638357.1:c.65G>C
ENST00000638498.1:c.651G>C ENSP00000490983.1:p.Lys217Asn
ENST00000638960.1:c.651G>C ENSP00000492302.1:p.Lys217Asn
ENST00000638983.1:c.651G>C ENSP00000492641.1:p.Lys217Asn
ENST00000639385.1:n.27G>C
ENST00000639602.1:c.522G>C ENSP00000492303.1:p.Lys174Asn
ENST00000639754.1:n.854G>C
ENST00000639952.1:c.651G>C ENSP00000492697.1:p.Lys217Asn
ENST00000640044.1:c.310+84332G>C ENSP00000491434.1:n.310+84332G>C
ENST00000640243.1:c.651G>C ENSP00000492803.1:p.Lys217Asn
ENST00000640522.1:c.651G>C ENSP00000491019.1:p.Lys217Asn
ENST00000640528.1:c.651G>C ENSP00000491725.1:p.Lys217Asn
ENST00000640566.1:c.310+84332G>C ENSP00000491302.1:n.310+84332G>C
ENST00000640710.1:c.651G>C ENSP00000492513.1:p.Lys217Asn
ENST00000640890.1:n.753G>C
ENST00000271751.8:c.651G>C ENSP00000271751.4:p.Lys217Asn
ENST00000367007.4:c.651G>C ENSP00000355974.4:p.Lys217Asn
NM_002238.3:c.651G>C NP_002229.1:p.Lys217Asn
NM_172362.2:c.651G>C NP_758872.1:p.Lys217Asn
NM_172362.3:c.651G>C MANE Select NP_758872.1:p.Lys217Asn
NM_002238.4:c.651G>C NP_002229.1:p.Lys217Asn