Canonical Allele Identifier: CA344870606

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683547C>G , CM000663.2:g.210683547C>G	GRCh38
NC_000001.10:g.210856889C>G , CM000663.1:g.210856889C>G	GRCh37
NC_000001.9:g.208923512C>G	NCBI36
NG_029777.1:g.455569G>C
NG_029777.2:g.455569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2704G>C MANE Select	ENSP00000271751.4:p.Asp902His
ENST00000367007.5:c.2623G>C	ENSP00000355974.5:p.Asp875His
ENST00000638357.1:c.1840G>C
ENST00000638498.1:c.2704G>C	ENSP00000490983.1:p.Asp902His
ENST00000638960.1:c.2623G>C	ENSP00000492302.1:p.Asp875His
ENST00000639952.1:c.2623G>C	ENSP00000492697.1:p.Asp875His
ENST00000640044.1:c.1552G>C	ENSP00000491434.1:p.Asp518His
ENST00000640243.1:c.*1209G>C	ENSP00000492803.1:n.*1209G>C
ENST00000640528.1:c.2623G>C	ENSP00000491725.1:p.Asp875His
ENST00000640566.1:c.1099G>C	ENSP00000491302.1:p.Asp367His
ENST00000640625.1:c.383G>C
ENST00000640710.1:c.2623G>C	ENSP00000492513.1:p.Asp875His
ENST00000271751.8:c.2704G>C	ENSP00000271751.4:p.Asp902His
ENST00000367007.4:c.2623G>C	ENSP00000355974.4:p.Asp875His
NM_002238.3:c.2623G>C	NP_002229.1:p.Asp875His
NM_172362.2:c.2704G>C	NP_758872.1:p.Asp902His
XM_011509514.1:c.1528G>C	XP_011507816.1:p.Asp510His
XM_017001246.1:c.1528G>C	XP_016856735.1:p.Asp510His
NM_172362.3:c.2704G>C MANE Select	NP_758872.1:p.Asp902His
NM_002238.4:c.2623G>C	NP_002229.1:p.Asp875His