Canonical Allele Identifier: CA423145394

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683665A>T , CM000663.2:g.210683665A>T	GRCh38
NC_000001.10:g.210857007A>T , CM000663.1:g.210857007A>T	GRCh37
NC_000001.9:g.208923630A>T	NCBI36
NG_029777.1:g.455451T>A
NG_029777.2:g.455451T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2586T>A MANE Select	ENSP00000271751.4:p.Leu862=
ENST00000367007.5:c.2505T>A	ENSP00000355974.5:p.Leu835=
ENST00000638357.1:c.1722T>A
ENST00000638498.1:c.2586T>A	ENSP00000490983.1:p.Leu862=
ENST00000638960.1:c.2505T>A	ENSP00000492302.1:p.Leu835=
ENST00000639952.1:c.2505T>A	ENSP00000492697.1:p.Leu835=
ENST00000640044.1:c.1434T>A	ENSP00000491434.1:p.Leu478=
ENST00000640243.1:c.*1091T>A	ENSP00000492803.1:n.*1091T>A
ENST00000640528.1:c.2505T>A	ENSP00000491725.1:p.Leu835=
ENST00000640566.1:c.981T>A	ENSP00000491302.1:p.Leu327=
ENST00000640625.1:c.265T>A
ENST00000640710.1:c.2505T>A	ENSP00000492513.1:p.Leu835=
ENST00000271751.8:c.2586T>A	ENSP00000271751.4:p.Leu862=
ENST00000367007.4:c.2505T>A	ENSP00000355974.4:p.Leu835=
NM_002238.3:c.2505T>A	NP_002229.1:p.Leu835=
NM_172362.2:c.2586T>A	NP_758872.1:p.Leu862=
XM_011509514.1:c.1410T>A	XP_011507816.1:p.Leu470=
XM_017001246.1:c.1410T>A	XP_016856735.1:p.Leu470=
NM_172362.3:c.2586T>A MANE Select	NP_758872.1:p.Leu862=
NM_002238.4:c.2505T>A	NP_002229.1:p.Leu835=