Canonical Allele Identifier: CA658822361

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 546625
• ClinVar RCV Id: RCV000658545
• dbSNP Id: rs1553360094
• MyVariant Identifiers: chr1:g.211093350_211093356del (hg19) ; chr1:g.210920008_210920014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920011_210920017del , CM000663.2:g.210920011_210920017del	GRCh38
NC_000001.10:g.211093353_211093359del , CM000663.1:g.211093353_211093359del	GRCh37
NC_000001.9:g.209159976_209159982del	NCBI36
NG_029777.1:g.219102_219108del
NG_029777.2:g.219102_219108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1088_1094del MANE Select	ENSP00000271751.4:p.Arg363ProfsTer?
ENST00000367007.5:c.1007_1013del	ENSP00000355974.5:p.Arg336ProfsTer?
ENST00000638357.1:c.421_427del
ENST00000638498.1:c.1088_1094del	ENSP00000490983.1:p.Arg363ProfsTer?
ENST00000638960.1:c.1007_1013del	ENSP00000492302.1:p.Arg336ProfsTer?
ENST00000638983.1:c.952-58820_952-58814del	ENSP00000492641.1:n.952-58820_952-58814del
ENST00000639385.1:n.456_462del
ENST00000639602.1:c.878_884del	ENSP00000492303.1:p.Arg293ProfsTer?
ENST00000639754.1:n.1291_1297del
ENST00000639952.1:c.1007_1013del	ENSP00000492697.1:p.Arg336ProfsTer?
ENST00000640044.1:c.311-115848_311-115842del	ENSP00000491434.1:n.311-115848_311-115842del
ENST00000640243.1:c.951+98850_951+98856del	ENSP00000492803.1:n.951+98850_951+98856del
ENST00000640522.1:c.1032+98769_1032+98775del	ENSP00000491019.1:n.1032+98769_1032+98775del
ENST00000640528.1:c.1007_1013del	ENSP00000491725.1:p.Arg336ProfsTer?
ENST00000640566.1:c.311-144470_311-144464del	ENSP00000491302.1:n.311-144470_311-144464del
ENST00000640710.1:c.1007_1013del	ENSP00000492513.1:p.Arg336ProfsTer?
ENST00000640890.1:n.1109_1115del
ENST00000271751.8:c.1088_1094del	ENSP00000271751.4:p.Arg363ProfsTer?
ENST00000367007.4:c.1007_1013del	ENSP00000355974.4:p.Arg336ProfsTer?
NM_002238.3:c.1007_1013del	NP_002229.1:p.Arg336ProfsTer?
NM_172362.2:c.1088_1094del	NP_758872.1:p.Arg363ProfsTer?
XM_011509514.1:c.-89_-83del	XP_011507816.1:n.-89_-83del
XM_017001246.1:c.-89_-83del	XP_016856735.1:n.-89_-83del
NM_172362.3:c.1088_1094del MANE Select	NP_758872.1:p.Arg363ProfsTer?
NM_002238.4:c.1007_1013del	NP_002229.1:p.Arg336ProfsTer?