Canonical Allele Identifier: CA215050

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 162523
• ClinVar RCV Id: RCV000149913
• dbSNP Id: rs727502822
• MyVariant Identifiers: chr1:g.211192506C>G (hg19) ; chr1:g.211019164C>G (hg38)
• PubMed: PMID:20683999 ; PMID:25420144

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