Canonical Allele Identifier: CA2484836169

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919946_210919947delinsAC , CM000663.2:g.210919946_210919947delinsAC	GRCh38
NC_000001.10:g.211093288_211093289delinsAC , CM000663.1:g.211093288_211093289delinsAC	GRCh37
NC_000001.9:g.209159911_209159912delinsAC	NCBI36
NG_029777.1:g.219169_219170delinsGT
NG_029777.2:g.219169_219170delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1155_1156delinsGT MANE Select	ENSP00000271751.4:p.Val385=
ENST00000367007.5:c.1074_1075delinsGT	ENSP00000355974.5:p.Val358=
ENST00000638357.1:c.488_489delinsGT
ENST00000638498.1:c.1155_1156delinsGT	ENSP00000490983.1:p.Val385=
ENST00000638960.1:c.1074_1075delinsGT	ENSP00000492302.1:p.Val358=
ENST00000638983.1:c.952-58753_952-58752delinsGT	ENSP00000492641.1:n.952-58753_952-58752de...
ENST00000639385.1:n.523_524delinsGT
ENST00000639602.1:c.945_946delinsGT	ENSP00000492303.1:p.Val315=
ENST00000639754.1:n.1358_1359delinsGT
ENST00000639952.1:c.1074_1075delinsGT	ENSP00000492697.1:p.Val358=
ENST00000640044.1:c.311-115781_311-115780delinsGT	ENSP00000491434.1:n.311-115781_311-115780...
ENST00000640243.1:c.951+98917_951+98918delinsGT	ENSP00000492803.1:n.951+98917_951+98918de...
ENST00000640522.1:c.1032+98836_1032+98837delinsGT	ENSP00000491019.1:n.1032+98836_1032+98837...
ENST00000640528.1:c.1074_1075delinsGT	ENSP00000491725.1:p.Val358=
ENST00000640566.1:c.311-144403_311-144402delinsGT	ENSP00000491302.1:n.311-144403_311-144402...
ENST00000640710.1:c.1074_1075delinsGT	ENSP00000492513.1:p.Val358=
ENST00000640890.1:n.1176_1177delinsGT
ENST00000271751.8:c.1155_1156delinsGT	ENSP00000271751.4:p.Val385=
ENST00000367007.4:c.1074_1075delinsGT	ENSP00000355974.4:p.Val358=
NM_002238.3:c.1074_1075delinsGT	NP_002229.1:p.Val358=
NM_172362.2:c.1155_1156delinsGT	NP_758872.1:p.Val385=
XM_011509514.1:c.-22_-21delinsGT	XP_011507816.1:n.-22_-21delinsGT
XM_017001246.1:c.-22_-21delinsGT	XP_016856735.1:n.-22_-21delinsGT
NM_172362.3:c.1155_1156delinsGT MANE Select	NP_758872.1:p.Val385=
NM_002238.4:c.1074_1075delinsGT	NP_002229.1:p.Val358=