Canonical Allele Identifier: CA344870118

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683321T>C , CM000663.2:g.210683321T>C	GRCh38
NC_000001.10:g.210856663T>C , CM000663.1:g.210856663T>C	GRCh37
NC_000001.9:g.208923286T>C	NCBI36
NG_029777.1:g.455795A>G
NG_029777.2:g.455795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2930A>G MANE Select	ENSP00000271751.4:p.Gln977Arg
ENST00000367007.5:c.2703+146A>G	ENSP00000355974.5:n.2703+146A>G
ENST00000638357.1:c.2066A>G
ENST00000638498.1:c.2784+146A>G	ENSP00000490983.1:n.2784+146A>G
ENST00000638960.1:c.2849A>G	ENSP00000492302.1:p.Gln950Arg
ENST00000639952.1:c.2849A>G	ENSP00000492697.1:p.Gln950Arg
ENST00000640044.1:c.1778A>G	ENSP00000491434.1:p.Gln593Arg
ENST00000640243.1:c.*1435A>G	ENSP00000492803.1:n.*1435A>G
ENST00000640528.1:c.2849A>G	ENSP00000491725.1:p.Gln950Arg
ENST00000640566.1:c.1325A>G	ENSP00000491302.1:p.Gln442Arg
ENST00000640625.1:c.463+146A>G
ENST00000640710.1:c.2849A>G	ENSP00000492513.1:p.Gln950Arg
ENST00000271751.8:c.2930A>G	ENSP00000271751.4:p.Gln977Arg
ENST00000367007.4:c.2849A>G	ENSP00000355974.4:p.Gln950Arg
NM_002238.3:c.2849A>G	NP_002229.1:p.Gln950Arg
NM_172362.2:c.2930A>G	NP_758872.1:p.Gln977Arg
XM_011509514.1:c.1754A>G	XP_011507816.1:p.Gln585Arg
XM_017001246.1:c.1754A>G	XP_016856735.1:p.Gln585Arg
NM_172362.3:c.2930A>G MANE Select	NP_758872.1:p.Gln977Arg
NM_002238.4:c.2849A>G	NP_002229.1:p.Gln950Arg