Canonical Allele Identifier: CA2484836170

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919948_210919949delinsAC , CM000663.2:g.210919948_210919949delinsAC	GRCh38
NC_000001.10:g.211093290_211093291delinsAC , CM000663.1:g.211093290_211093291delinsAC	GRCh37
NC_000001.9:g.209159913_209159914delinsAC	NCBI36
NG_029777.1:g.219167_219168delinsGT
NG_029777.2:g.219167_219168delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1153_1154delinsGT MANE Select	ENSP00000271751.4:p.Val385=
ENST00000367007.5:c.1072_1073delinsGT	ENSP00000355974.5:p.Val358=
ENST00000638357.1:c.486_487delinsGT
ENST00000638498.1:c.1153_1154delinsGT	ENSP00000490983.1:p.Val385=
ENST00000638960.1:c.1072_1073delinsGT	ENSP00000492302.1:p.Val358=
ENST00000638983.1:c.952-58755_952-58754delinsGT	ENSP00000492641.1:n.952-58755_952-58754de...
ENST00000639385.1:n.521_522delinsGT
ENST00000639602.1:c.943_944delinsGT	ENSP00000492303.1:p.Val315=
ENST00000639754.1:n.1356_1357delinsGT
ENST00000639952.1:c.1072_1073delinsGT	ENSP00000492697.1:p.Val358=
ENST00000640044.1:c.311-115783_311-115782delinsGT	ENSP00000491434.1:n.311-115783_311-115782...
ENST00000640243.1:c.951+98915_951+98916delinsGT	ENSP00000492803.1:n.951+98915_951+98916de...
ENST00000640522.1:c.1032+98834_1032+98835delinsGT	ENSP00000491019.1:n.1032+98834_1032+98835...
ENST00000640528.1:c.1072_1073delinsGT	ENSP00000491725.1:p.Val358=
ENST00000640566.1:c.311-144405_311-144404delinsGT	ENSP00000491302.1:n.311-144405_311-144404...
ENST00000640710.1:c.1072_1073delinsGT	ENSP00000492513.1:p.Val358=
ENST00000640890.1:n.1174_1175delinsGT
ENST00000271751.8:c.1153_1154delinsGT	ENSP00000271751.4:p.Val385=
ENST00000367007.4:c.1072_1073delinsGT	ENSP00000355974.4:p.Val358=
NM_002238.3:c.1072_1073delinsGT	NP_002229.1:p.Val358=
NM_172362.2:c.1153_1154delinsGT	NP_758872.1:p.Val385=
XM_011509514.1:c.-24_-23delinsGT	XP_011507816.1:n.-24_-23delinsGT
XM_017001246.1:c.-24_-23delinsGT	XP_016856735.1:n.-24_-23delinsGT
NM_172362.3:c.1153_1154delinsGT MANE Select	NP_758872.1:p.Val385=
NM_002238.4:c.1072_1073delinsGT	NP_002229.1:p.Val358=