Canonical Allele Identifier: CA344873933

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 2894243
• ClinVar RCV Id: RCV003725724
• MyVariant Identifiers: chr1:g.211093329A>G (hg19) ; chr1:g.210919987A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919987A>G , CM000663.2:g.210919987A>G	GRCh38
NC_000001.10:g.211093329A>G , CM000663.1:g.211093329A>G	GRCh37
NC_000001.9:g.209159952A>G	NCBI36
NG_029777.1:g.219129T>C
NG_029777.2:g.219129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1115T>C MANE Select	ENSP00000271751.4:p.Ile372Thr
ENST00000367007.5:c.1034T>C	ENSP00000355974.5:p.Ile345Thr
ENST00000638357.1:c.448T>C
ENST00000638498.1:c.1115T>C	ENSP00000490983.1:p.Ile372Thr
ENST00000638960.1:c.1034T>C	ENSP00000492302.1:p.Ile345Thr
ENST00000638983.1:c.952-58793T>C	ENSP00000492641.1:n.952-58793T>C
ENST00000639385.1:n.483T>C
ENST00000639602.1:c.905T>C	ENSP00000492303.1:p.Ile302Thr
ENST00000639754.1:n.1318T>C
ENST00000639952.1:c.1034T>C	ENSP00000492697.1:p.Ile345Thr
ENST00000640044.1:c.311-115821T>C	ENSP00000491434.1:n.311-115821T>C
ENST00000640243.1:c.951+98877T>C	ENSP00000492803.1:n.951+98877T>C
ENST00000640522.1:c.1032+98796T>C	ENSP00000491019.1:n.1032+98796T>C
ENST00000640528.1:c.1034T>C	ENSP00000491725.1:p.Ile345Thr
ENST00000640566.1:c.311-144443T>C	ENSP00000491302.1:n.311-144443T>C
ENST00000640710.1:c.1034T>C	ENSP00000492513.1:p.Ile345Thr
ENST00000640890.1:n.1136T>C
ENST00000271751.8:c.1115T>C	ENSP00000271751.4:p.Ile372Thr
ENST00000367007.4:c.1034T>C	ENSP00000355974.4:p.Ile345Thr
NM_002238.3:c.1034T>C	NP_002229.1:p.Ile345Thr
NM_172362.2:c.1115T>C	NP_758872.1:p.Ile372Thr
XM_011509514.1:c.-62T>C	XP_011507816.1:n.-62T>C
XM_017001246.1:c.-62T>C	XP_016856735.1:n.-62T>C
NM_172362.3:c.1115T>C MANE Select	NP_758872.1:p.Ile372Thr
NM_002238.4:c.1034T>C	NP_002229.1:p.Ile345Thr