Canonical Allele Identifier: CA2747590726
Gene: KCNH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919949_210919950insCCCA , CM000663.2:g.210919949_210919950insCCCA GRCh38
NC_000001.10:g.211093291_211093292insCCCA , CM000663.1:g.211093291_211093292insCCCA GRCh37
NC_000001.9:g.209159914_209159915insCCCA NCBI36
NG_029777.1:g.219166_219167insTGGG
NG_029777.2:g.219166_219167insTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1152_1153insTGGG MANE Select ENSP00000271751.4:p.Val385TrpfsTer21
ENST00000367007.5:c.1071_1072insTGGG ENSP00000355974.5:p.Val358TrpfsTer21
ENST00000638357.1:c.485_486insTGGG
ENST00000638498.1:c.1152_1153insTGGG ENSP00000490983.1:p.Val385TrpfsTer21
ENST00000638960.1:c.1071_1072insTGGG ENSP00000492302.1:p.Val358TrpfsTer21
ENST00000638983.1:c.952-58756_952-58755insTGGG ENSP00000492641.1:n.952-58756_952-58755insTGGG
ENST00000639385.1:n.520_521insTGGG
ENST00000639602.1:c.942_943insTGGG ENSP00000492303.1:p.Val315TrpfsTer21
ENST00000639754.1:n.1355_1356insTGGG
ENST00000639952.1:c.1071_1072insTGGG ENSP00000492697.1:p.Val358TrpfsTer21
ENST00000640044.1:c.311-115784_311-115783insTGGG ENSP00000491434.1:n.311-115784_311-115783insTGGG
ENST00000640243.1:c.951+98914_951+98915insTGGG ENSP00000492803.1:n.951+98914_951+98915insTGGG
ENST00000640522.1:c.1032+98833_1032+98834insTGGG ENSP00000491019.1:n.1032+98833_1032+98834insTGGG
ENST00000640528.1:c.1071_1072insTGGG ENSP00000491725.1:p.Val358TrpfsTer21
ENST00000640566.1:c.311-144406_311-144405insTGGG ENSP00000491302.1:n.311-144406_311-144405insTGGG
ENST00000640710.1:c.1071_1072insTGGG ENSP00000492513.1:p.Val358TrpfsTer21
ENST00000640890.1:n.1173_1174insTGGG
ENST00000271751.8:c.1152_1153insTGGG ENSP00000271751.4:p.Val385TrpfsTer21
ENST00000367007.4:c.1071_1072insTGGG ENSP00000355974.4:p.Val358TrpfsTer21
NM_002238.3:c.1071_1072insTGGG NP_002229.1:p.Val358TrpfsTer21
NM_172362.2:c.1152_1153insTGGG NP_758872.1:p.Val385TrpfsTer21
XM_011509514.1:c.-25_-24insTGGG XP_011507816.1:n.-25_-24insTGGG
XM_017001246.1:c.-25_-24insTGGG XP_016856735.1:n.-25_-24insTGGG
NM_172362.3:c.1152_1153insTGGG MANE Select NP_758872.1:p.Val385TrpfsTer21
NM_002238.4:c.1071_1072insTGGG NP_002229.1:p.Val358TrpfsTer21