Canonical Allele Identifier: CA2484836151

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919873_210919888delinsGTGTCCTCGTCAAAGA , CM000663.2:g.210919873_210919888delinsGTGTCCTCGTCAAAGA	GRCh38
NC_000001.10:g.211093215_211093230delinsGTGTCCTCGTCAAAGA , CM000663.1:g.211093215_211093230delinsGTGTCCTCGTCAAAGA	GRCh37
NC_000001.9:g.209159838_209159853delinsGTGTCCTCGTCAAAGA	NCBI36
NG_029777.1:g.219228_219243delinsTCTTTGACGAGGACAC
NG_029777.2:g.219228_219243delinsTCTTTGACGAGGACAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1214_1229delinsTCTTTGACGAGGACAC MANE Select	ENSP00000271751.4:p.Ile405=
ENST00000367007.5:c.1133_1148delinsTCTTTGACGAGGACAC	ENSP00000355974.5:p.Ile378=
ENST00000638357.1:c.547_562delinsTCTTTGACGAGGACAC
ENST00000638498.1:c.1214_1229delinsTCTTTGACGAGGACAC	ENSP00000490983.1:p.Ile405=
ENST00000638960.1:c.1133_1148delinsTCTTTGACGAGGACAC	ENSP00000492302.1:p.Ile378=
ENST00000638983.1:c.952-58694_952-58679delinsTCTTTGACGAGGACAC	ENSP00000492641.1:n.952-58694_952-58679de...
ENST00000639385.1:n.582_597delinsTCTTTGACGAGGACAC
ENST00000639602.1:c.1004_1019delinsTCTTTGACGAGGACAC	ENSP00000492303.1:p.Ile335=
ENST00000639754.1:n.1417_1432delinsTCTTTGACGAGGACAC
ENST00000639952.1:c.1133_1148delinsTCTTTGACGAGGACAC	ENSP00000492697.1:p.Ile378=
ENST00000640044.1:c.311-115722_311-115707delinsTCTTTGACGAGGACAC	ENSP00000491434.1:n.311-115722_311-115707...
ENST00000640243.1:c.951+98976_951+98991delinsTCTTTGACGAGGACAC	ENSP00000492803.1:n.951+98976_951+98991de...
ENST00000640522.1:c.1032+98895_1032+98910delinsTCTTTGACGAGGACAC	ENSP00000491019.1:n.1032+98895_1032+98910...
ENST00000640528.1:c.1133_1148delinsTCTTTGACGAGGACAC	ENSP00000491725.1:p.Ile378=
ENST00000640566.1:c.311-144344_311-144329delinsTCTTTGACGAGGACAC	ENSP00000491302.1:n.311-144344_311-144329...
ENST00000640710.1:c.1133_1148delinsTCTTTGACGAGGACAC	ENSP00000492513.1:p.Ile378=
ENST00000640890.1:n.1235_1250delinsTCTTTGACGAGGACAC
ENST00000271751.8:c.1214_1229delinsTCTTTGACGAGGACAC	ENSP00000271751.4:p.Ile405=
ENST00000367007.4:c.1133_1148delinsTCTTTGACGAGGACAC	ENSP00000355974.4:p.Ile378=
NM_002238.3:c.1133_1148delinsTCTTTGACGAGGACAC	NP_002229.1:p.Ile378=
NM_172362.2:c.1214_1229delinsTCTTTGACGAGGACAC	NP_758872.1:p.Ile405=
XM_011509514.1:c.38_53delinsTCTTTGACGAGGACAC	XP_011507816.1:p.Ile13=
XM_017001246.1:c.38_53delinsTCTTTGACGAGGACAC	XP_016856735.1:p.Ile13=
NM_172362.3:c.1214_1229delinsTCTTTGACGAGGACAC MANE Select	NP_758872.1:p.Ile405=
NM_002238.4:c.1133_1148delinsTCTTTGACGAGGACAC	NP_002229.1:p.Ile378=