Canonical Allele Identifier: CA215095
Gene: KCNH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183416
ClinVar RCV Id: RCV000185592
dbSNP Id: rs730882176
MyVariant Identifiers: chr1:g.211093309G>C (hg19) chr1:g.210919967G>C (hg38)
PubMed: PMID:23994350 PMID:25915598 PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919967G>C , CM000663.2:g.210919967G>C GRCh38
NC_000001.10:g.211093309G>C , CM000663.1:g.211093309G>C GRCh37
NC_000001.9:g.209159932G>C NCBI36
NG_029777.1:g.219149C>G
NG_029777.2:g.219149C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000271751.10:c.1135C>G MANE Select ENSP00000271751.4:p.Leu379Val
ENST00000367007.5:c.1054C>G ENSP00000355974.5:p.Leu352Val
ENST00000638357.1:c.468C>G
ENST00000638498.1:c.1135C>G ENSP00000490983.1:p.Leu379Val
ENST00000638960.1:c.1054C>G ENSP00000492302.1:p.Leu352Val
ENST00000638983.1:c.952-58773C>G ENSP00000492641.1:n.952-58773C>G
ENST00000639385.1:n.503C>G
ENST00000639602.1:c.925C>G ENSP00000492303.1:p.Leu309Val
ENST00000639754.1:n.1338C>G
ENST00000639952.1:c.1054C>G ENSP00000492697.1:p.Leu352Val
ENST00000640044.1:c.311-115801C>G ENSP00000491434.1:n.311-115801C>G
ENST00000640243.1:c.951+98897C>G ENSP00000492803.1:n.951+98897C>G
ENST00000640522.1:c.1032+98816C>G ENSP00000491019.1:n.1032+98816C>G
ENST00000640528.1:c.1054C>G ENSP00000491725.1:p.Leu352Val
ENST00000640566.1:c.311-144423C>G ENSP00000491302.1:n.311-144423C>G
ENST00000640710.1:c.1054C>G ENSP00000492513.1:p.Leu352Val
ENST00000640890.1:n.1156C>G
ENST00000271751.8:c.1135C>G ENSP00000271751.4:p.Leu379Val
ENST00000367007.4:c.1054C>G ENSP00000355974.4:p.Leu352Val
NM_002238.3:c.1054C>G NP_002229.1:p.Leu352Val
NM_172362.2:c.1135C>G NP_758872.1:p.Leu379Val
XM_011509514.1:c.-42C>G XP_011507816.1:n.-42C>G
XM_017001246.1:c.-42C>G XP_016856735.1:n.-42C>G
NM_172362.3:c.1135C>G MANE Select NP_758872.1:p.Leu379Val
NM_002238.4:c.1054C>G NP_002229.1:p.Leu352Val
Search 100 bp 5'
Search 100 bp 3'