Canonical Allele Identifier: CA1379586

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683458G>A , CM000663.2:g.210683458G>A	GRCh38
NC_000001.10:g.210856800G>A , CM000663.1:g.210856800G>A	GRCh37
NC_000001.9:g.208923423G>A	NCBI36
NG_029777.1:g.455658C>T
NG_029777.2:g.455658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2793C>T MANE Select	ENSP00000271751.4:p.His931=
ENST00000367007.5:c.2703+9C>T	ENSP00000355974.5:n.2703+9C>T
ENST00000638357.1:c.1929C>T
ENST00000638498.1:c.2784+9C>T	ENSP00000490983.1:n.2784+9C>T
ENST00000638960.1:c.2712C>T	ENSP00000492302.1:p.His904=
ENST00000639952.1:c.2712C>T	ENSP00000492697.1:p.His904=
ENST00000640044.1:c.1641C>T	ENSP00000491434.1:p.His547=
ENST00000640243.1:c.*1298C>T	ENSP00000492803.1:n.*1298C>T
ENST00000640528.1:c.2712C>T	ENSP00000491725.1:p.His904=
ENST00000640566.1:c.1188C>T	ENSP00000491302.1:p.His396=
ENST00000640625.1:c.463+9C>T
ENST00000640710.1:c.2712C>T	ENSP00000492513.1:p.His904=
ENST00000271751.8:c.2793C>T	ENSP00000271751.4:p.His931=
ENST00000367007.4:c.2712C>T	ENSP00000355974.4:p.His904=
NM_002238.3:c.2712C>T	NP_002229.1:p.His904=
NM_172362.2:c.2793C>T	NP_758872.1:p.His931=
XM_011509514.1:c.1617C>T	XP_011507816.1:p.His539=
XM_017001246.1:c.1617C>T	XP_016856735.1:p.His539=
NM_172362.3:c.2793C>T MANE Select	NP_758872.1:p.His931=
NM_002238.4:c.2712C>T	NP_002229.1:p.His904=