Canonical Allele Identifier: CA423146170

Gene: KCNH1

Linked Data

• COSMIC: COSM1338602
• MyVariant Identifiers: chr1:g.211192509del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019171del , CM000663.2:g.211019171del	GRCh38
NC_000001.10:g.211192513del , CM000663.1:g.211192513del	GRCh37
NC_000001.9:g.209259136del	NCBI36
NG_029777.1:g.119949del
NG_029777.2:g.119949del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.648del MANE Select	ENSP00000271751.4:p.Phe216LeufsTer10
ENST00000367007.5:c.648del	ENSP00000355974.5:p.Phe216LeufsTer10
ENST00000638357.1:c.62del
ENST00000638498.1:c.648del	ENSP00000490983.1:p.Phe216LeufsTer10
ENST00000638960.1:c.648del	ENSP00000492302.1:p.Phe216LeufsTer10
ENST00000638983.1:c.648del	ENSP00000492641.1:p.Phe216LeufsTer10
ENST00000639385.1:n.24del
ENST00000639602.1:c.519del	ENSP00000492303.1:p.Phe173LeufsTer10
ENST00000639754.1:n.851del
ENST00000639952.1:c.648del	ENSP00000492697.1:p.Phe216LeufsTer10
ENST00000640044.1:c.310+84329del	ENSP00000491434.1:n.310+84329del
ENST00000640243.1:c.648del	ENSP00000492803.1:p.Phe216LeufsTer10
ENST00000640522.1:c.648del	ENSP00000491019.1:p.Phe216LeufsTer10
ENST00000640528.1:c.648del	ENSP00000491725.1:p.Phe216LeufsTer10
ENST00000640566.1:c.310+84329del	ENSP00000491302.1:n.310+84329del
ENST00000640710.1:c.648del	ENSP00000492513.1:p.Phe216LeufsTer10
ENST00000640890.1:n.750del
ENST00000271751.8:c.648del	ENSP00000271751.4:p.Phe216LeufsTer10
ENST00000367007.4:c.648del	ENSP00000355974.4:p.Phe216LeufsTer10
NM_002238.3:c.648del	NP_002229.1:p.Phe216LeufsTer10
NM_172362.2:c.648del	NP_758872.1:p.Phe216LeufsTer10
NM_172362.3:c.648del MANE Select	NP_758872.1:p.Phe216LeufsTer10
NM_002238.4:c.648del	NP_002229.1:p.Phe216LeufsTer10