Canonical Allele Identifier: CA215045
Gene: KCNH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162520
ClinVar RCV Id: RCV000149910 RCV000185590 RCV000677640 RCV001781489
dbSNP Id: rs727502819
MyVariant Identifiers: chr1:g.210977491T>C (hg19) chr1:g.210804149T>C (hg38)
PubMed: PMID:20683999 PMID:24357613 PMID:25420144 PMID:25915598 PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210804149T>C , CM000663.2:g.210804149T>C GRCh38
NC_000001.10:g.210977491T>C , CM000663.1:g.210977491T>C GRCh37
NC_000001.9:g.209044114T>C NCBI36
NG_029777.1:g.334967A>G
NG_029777.2:g.334967A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000271751.10:c.1480A>G MANE Select ENSP00000271751.4:p.Ile494Val
ENST00000367007.5:c.1399A>G ENSP00000355974.5:p.Ile467Val
ENST00000638357.1:c.813A>G
ENST00000638498.1:c.1480A>G ENSP00000490983.1:p.Ile494Val
ENST00000638960.1:c.1399A>G ENSP00000492302.1:p.Ile467Val
ENST00000639952.1:c.1399A>G ENSP00000492697.1:p.Ile467Val
ENST00000640044.1:c.328A>G ENSP00000491434.1:p.Ile110Val
ENST00000640243.1:c.969A>G ENSP00000492803.1:p.Pro323=
ENST00000640522.1:c.1050A>G ENSP00000491019.1:p.Pro350=
ENST00000640528.1:c.1399A>G ENSP00000491725.1:p.Ile467Val
ENST00000640566.1:c.311-28605A>G ENSP00000491302.1:n.311-28605A>G
ENST00000640710.1:c.1399A>G ENSP00000492513.1:p.Ile467Val
ENST00000271751.8:c.1480A>G ENSP00000271751.4:p.Ile494Val
ENST00000367007.4:c.1399A>G ENSP00000355974.4:p.Ile467Val
NM_002238.3:c.1399A>G NP_002229.1:p.Ile467Val
NM_172362.2:c.1480A>G NP_758872.1:p.Ile494Val
XM_011509514.1:c.304A>G XP_011507816.1:p.Ile102Val
XM_017001246.1:c.304A>G XP_016856735.1:p.Ile102Val
NM_172362.3:c.1480A>G MANE Select NP_758872.1:p.Ile494Val
NM_002238.4:c.1399A>G NP_002229.1:p.Ile467Val
Search 100 bp 5'
Search 100 bp 3'