Canonical Allele Identifier: CA344870071

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683299G>C , CM000663.2:g.210683299G>C	GRCh38
NC_000001.10:g.210856641G>C , CM000663.1:g.210856641G>C	GRCh37
NC_000001.9:g.208923264G>C	NCBI36
NG_029777.1:g.455817C>G
NG_029777.2:g.455817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2952C>G MANE Select	ENSP00000271751.4:p.Asp984Glu
ENST00000367007.5:c.2703+168C>G	ENSP00000355974.5:n.2703+168C>G
ENST00000638357.1:c.2088C>G
ENST00000638498.1:c.2784+168C>G	ENSP00000490983.1:n.2784+168C>G
ENST00000638960.1:c.2871C>G	ENSP00000492302.1:p.Asp957Glu
ENST00000639952.1:c.2871C>G	ENSP00000492697.1:p.Asp957Glu
ENST00000640044.1:c.1800C>G	ENSP00000491434.1:p.Asp600Glu
ENST00000640243.1:c.*1457C>G	ENSP00000492803.1:n.*1457C>G
ENST00000640528.1:c.2871C>G	ENSP00000491725.1:p.Asp957Glu
ENST00000640566.1:c.1347C>G	ENSP00000491302.1:p.Asp449Glu
ENST00000640625.1:c.463+168C>G
ENST00000640710.1:c.2871C>G	ENSP00000492513.1:p.Asp957Glu
ENST00000271751.8:c.2952C>G	ENSP00000271751.4:p.Asp984Glu
ENST00000367007.4:c.2871C>G	ENSP00000355974.4:p.Asp957Glu
NM_002238.3:c.2871C>G	NP_002229.1:p.Asp957Glu
NM_172362.2:c.2952C>G	NP_758872.1:p.Asp984Glu
XM_011509514.1:c.1776C>G	XP_011507816.1:p.Asp592Glu
XM_017001246.1:c.1776C>G	XP_016856735.1:p.Asp592Glu
NM_172362.3:c.2952C>G MANE Select	NP_758872.1:p.Asp984Glu
NM_002238.4:c.2871C>G	NP_002229.1:p.Asp957Glu