Canonical Allele Identifier: CA1379543

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683262T>G , CM000663.2:g.210683262T>G	GRCh38
NC_000001.10:g.210856604T>G , CM000663.1:g.210856604T>G	GRCh37
NC_000001.9:g.208923227T>G	NCBI36
NG_029777.1:g.455854A>C
NG_029777.2:g.455854A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_172362.3:c.*19A>C MANE Select	NP_758872.1:n.*19A>C
ENST00000271751.10:c.*19A>C MANE Select	ENSP00000271751.4:n.*19A>C
NM_002238.3:c.*19A>C	NP_002229.1:n.*19A>C
NM_002238.4:c.*19A>C	NP_002229.1:n.*19A>C
NM_172362.2:c.*19A>C	NP_758872.1:n.*19A>C
ENST00000271751.8:c.*19A>C	ENSP00000271751.4:n.*19A>C
ENST00000367007.4:c.*19A>C	ENSP00000355974.4:n.*19A>C
ENST00000367007.5:c.2703+205A>C	ENSP00000355974.5:n.2703+205A>C
ENST00000638357.1:c.2125A>C
ENST00000638498.1:c.2784+205A>C	ENSP00000490983.1:n.2784+205A>C
ENST00000638960.1:c.*19A>C	ENSP00000492302.1:n.*19A>C
ENST00000639952.1:c.*19A>C	ENSP00000492697.1:n.*19A>C
ENST00000640243.1:c.*1494A>C	ENSP00000492803.1:n.*1494A>C
ENST00000640528.1:c.*19A>C	ENSP00000491725.1:n.*19A>C
ENST00000640625.1:c.463+205A>C
ENST00000640710.1:c.*19A>C	ENSP00000492513.1:n.*19A>C
XM_011509514.1:c.*19A>C	XP_011507816.1:n.*19A>C
XM_017001246.1:c.*19A>C	XP_016856735.1:n.*19A>C