Canonical Allele Identifier: CA2840997440

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920028dup , CM000663.2:g.210920028dup	GRCh38
NC_000001.10:g.211093370dup , CM000663.1:g.211093370dup	GRCh37
NC_000001.9:g.209159993dup	NCBI36
NG_029777.1:g.219088dup
NG_029777.2:g.219088dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1074dup MANE Select	ENSP00000271751.4:p.Leu359AlafsTer9
ENST00000367007.5:c.993dup	ENSP00000355974.5:p.Leu332AlafsTer9
ENST00000638357.1:c.407dup
ENST00000638498.1:c.1074dup	ENSP00000490983.1:p.Leu359AlafsTer9
ENST00000638960.1:c.993dup	ENSP00000492302.1:p.Leu332AlafsTer9
ENST00000638983.1:c.952-58834dup	ENSP00000492641.1:n.952-58834dup
ENST00000639385.1:n.442dup
ENST00000639602.1:c.864dup	ENSP00000492303.1:p.Leu289AlafsTer9
ENST00000639754.1:n.1277dup
ENST00000639952.1:c.993dup	ENSP00000492697.1:p.Leu332AlafsTer9
ENST00000640044.1:c.311-115862dup	ENSP00000491434.1:n.311-115862dup
ENST00000640243.1:c.951+98836dup	ENSP00000492803.1:n.951+98836dup
ENST00000640522.1:c.1032+98755dup	ENSP00000491019.1:n.1032+98755dup
ENST00000640528.1:c.993dup	ENSP00000491725.1:p.Leu332AlafsTer9
ENST00000640566.1:c.311-144484dup	ENSP00000491302.1:n.311-144484dup
ENST00000640710.1:c.993dup	ENSP00000492513.1:p.Leu332AlafsTer9
ENST00000640890.1:n.1095dup
ENST00000271751.8:c.1074dup	ENSP00000271751.4:p.Leu359AlafsTer9
ENST00000367007.4:c.993dup	ENSP00000355974.4:p.Leu332AlafsTer9
NM_002238.3:c.993dup	NP_002229.1:p.Leu332AlafsTer9
NM_172362.2:c.1074dup	NP_758872.1:p.Leu359AlafsTer9
XM_011509514.1:c.-103dup	XP_011507816.1:n.-103dup
XM_017001246.1:c.-103dup	XP_016856735.1:n.-103dup
NM_172362.3:c.1074dup MANE Select	NP_758872.1:p.Leu359AlafsTer9
NM_002238.4:c.993dup	NP_002229.1:p.Leu332AlafsTer9