Canonical Allele Identifier: CA215049
Gene: KCNH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162522
ClinVar RCV Id: RCV000149912
dbSNP Id: rs727502821
MyVariant Identifiers: chr1:g.210977463T>C (hg19) chr1:g.210804121T>C (hg38)
PubMed: PMID:18203178 PMID:25420144
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210804121T>C , CM000663.2:g.210804121T>C GRCh38
NC_000001.10:g.210977463T>C , CM000663.1:g.210977463T>C GRCh37
NC_000001.9:g.209044086T>C NCBI36
NG_029777.1:g.334995A>G
NG_029777.2:g.334995A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000271751.10:c.1508A>G MANE Select ENSP00000271751.4:p.Gln503Arg
ENST00000367007.5:c.1427A>G ENSP00000355974.5:p.Gln476Arg
ENST00000638357.1:c.841A>G
ENST00000638498.1:c.1508A>G ENSP00000490983.1:p.Gln503Arg
ENST00000638960.1:c.1427A>G ENSP00000492302.1:p.Gln476Arg
ENST00000639952.1:c.1427A>G ENSP00000492697.1:p.Gln476Arg
ENST00000640044.1:c.356A>G ENSP00000491434.1:p.Gln119Arg
ENST00000640243.1:c.*13A>G ENSP00000492803.1:n.*13A>G
ENST00000640522.1:c.*13A>G ENSP00000491019.1:n.*13A>G
ENST00000640528.1:c.1427A>G ENSP00000491725.1:p.Gln476Arg
ENST00000640566.1:c.311-28577A>G ENSP00000491302.1:n.311-28577A>G
ENST00000640710.1:c.1427A>G ENSP00000492513.1:p.Gln476Arg
ENST00000271751.8:c.1508A>G ENSP00000271751.4:p.Gln503Arg
ENST00000367007.4:c.1427A>G ENSP00000355974.4:p.Gln476Arg
NM_002238.3:c.1427A>G NP_002229.1:p.Gln476Arg
NM_172362.2:c.1508A>G NP_758872.1:p.Gln503Arg
XM_011509514.1:c.332A>G XP_011507816.1:p.Gln111Arg
XM_017001246.1:c.332A>G XP_016856735.1:p.Gln111Arg
NM_172362.3:c.1508A>G MANE Select NP_758872.1:p.Gln503Arg
NM_002238.4:c.1427A>G NP_002229.1:p.Gln476Arg
Search 100 bp 5'
Search 100 bp 3'