Canonical Allele Identifier: CA344873580

Gene: KCNH1

Linked Data

• dbSNP Id: rs2102561579
• MyVariant Identifiers: chr1:g.211093234C>G (hg19) ; chr1:g.210919892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919892C>G , CM000663.2:g.210919892C>G	GRCh38
NC_000001.10:g.211093234C>G , CM000663.1:g.211093234C>G	GRCh37
NC_000001.9:g.209159857C>G	NCBI36
NG_029777.1:g.219224G>C
NG_029777.2:g.219224G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1210G>C MANE Select	ENSP00000271751.4:p.Glu404Gln
ENST00000367007.5:c.1129G>C	ENSP00000355974.5:p.Glu377Gln
ENST00000638357.1:c.543G>C
ENST00000638498.1:c.1210G>C	ENSP00000490983.1:p.Glu404Gln
ENST00000638960.1:c.1129G>C	ENSP00000492302.1:p.Glu377Gln
ENST00000638983.1:c.952-58698G>C	ENSP00000492641.1:n.952-58698G>C
ENST00000639385.1:n.578G>C
ENST00000639602.1:c.1000G>C	ENSP00000492303.1:p.Glu334Gln
ENST00000639754.1:n.1413G>C
ENST00000639952.1:c.1129G>C	ENSP00000492697.1:p.Glu377Gln
ENST00000640044.1:c.311-115726G>C	ENSP00000491434.1:n.311-115726G>C
ENST00000640243.1:c.951+98972G>C	ENSP00000492803.1:n.951+98972G>C
ENST00000640522.1:c.1032+98891G>C	ENSP00000491019.1:n.1032+98891G>C
ENST00000640528.1:c.1129G>C	ENSP00000491725.1:p.Glu377Gln
ENST00000640566.1:c.311-144348G>C	ENSP00000491302.1:n.311-144348G>C
ENST00000640710.1:c.1129G>C	ENSP00000492513.1:p.Glu377Gln
ENST00000640890.1:n.1231G>C
ENST00000271751.8:c.1210G>C	ENSP00000271751.4:p.Glu404Gln
ENST00000367007.4:c.1129G>C	ENSP00000355974.4:p.Glu377Gln
NM_002238.3:c.1129G>C	NP_002229.1:p.Glu377Gln
NM_172362.2:c.1210G>C	NP_758872.1:p.Glu404Gln
XM_011509514.1:c.34G>C	XP_011507816.1:p.Glu12Gln
XM_017001246.1:c.34G>C	XP_016856735.1:p.Glu12Gln
NM_172362.3:c.1210G>C MANE Select	NP_758872.1:p.Glu404Gln
NM_002238.4:c.1129G>C	NP_002229.1:p.Glu377Gln