Canonical Allele Identifier: CA10581296
Gene: KCNH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235383
ClinVar RCV Id: RCV000224297 RCV001375036
dbSNP Id: rs878853026
COSMIC: COSM5473300
MyVariant Identifiers: chr1:g.211093308A>G (hg19) chr1:g.210919966A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919966A>G , CM000663.2:g.210919966A>G GRCh38
NC_000001.10:g.211093308A>G , CM000663.1:g.211093308A>G GRCh37
NC_000001.9:g.209159931A>G NCBI36
NG_029777.1:g.219150T>C
NG_029777.2:g.219150T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000271751.10:c.1136T>C MANE Select ENSP00000271751.4:p.Leu379Pro
ENST00000367007.5:c.1055T>C ENSP00000355974.5:p.Leu352Pro
ENST00000638357.1:c.469T>C
ENST00000638498.1:c.1136T>C ENSP00000490983.1:p.Leu379Pro
ENST00000638960.1:c.1055T>C ENSP00000492302.1:p.Leu352Pro
ENST00000638983.1:c.952-58772T>C ENSP00000492641.1:n.952-58772T>C
ENST00000639385.1:n.504T>C
ENST00000639602.1:c.926T>C ENSP00000492303.1:p.Leu309Pro
ENST00000639754.1:n.1339T>C
ENST00000639952.1:c.1055T>C ENSP00000492697.1:p.Leu352Pro
ENST00000640044.1:c.311-115800T>C ENSP00000491434.1:n.311-115800T>C
ENST00000640243.1:c.951+98898T>C ENSP00000492803.1:n.951+98898T>C
ENST00000640522.1:c.1032+98817T>C ENSP00000491019.1:n.1032+98817T>C
ENST00000640528.1:c.1055T>C ENSP00000491725.1:p.Leu352Pro
ENST00000640566.1:c.311-144422T>C ENSP00000491302.1:n.311-144422T>C
ENST00000640710.1:c.1055T>C ENSP00000492513.1:p.Leu352Pro
ENST00000640890.1:n.1157T>C
ENST00000271751.8:c.1136T>C ENSP00000271751.4:p.Leu379Pro
ENST00000367007.4:c.1055T>C ENSP00000355974.4:p.Leu352Pro
NM_002238.3:c.1055T>C NP_002229.1:p.Leu352Pro
NM_172362.2:c.1136T>C NP_758872.1:p.Leu379Pro
XM_011509514.1:c.-41T>C XP_011507816.1:n.-41T>C
XM_017001246.1:c.-41T>C XP_016856735.1:n.-41T>C
NM_172362.3:c.1136T>C MANE Select NP_758872.1:p.Leu379Pro
NM_002238.4:c.1055T>C NP_002229.1:p.Leu352Pro
Search 100 bp 5'
Search 100 bp 3'