Canonical Allele Identifier: CA344874113

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 1362356
• ClinVar RCV Id: RCV001932249
• dbSNP Id: rs2102561800
• COSMIC: COSM123858
• MyVariant Identifiers: chr1:g.211093356C>T (hg19) ; chr1:g.210920014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920014C>T , CM000663.2:g.210920014C>T	GRCh38
NC_000001.10:g.211093356C>T , CM000663.1:g.211093356C>T	GRCh37
NC_000001.9:g.209159979C>T	NCBI36
NG_029777.1:g.219102G>A
NG_029777.2:g.219102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1088G>A MANE Select	ENSP00000271751.4:p.Arg363Gln
ENST00000367007.5:c.1007G>A	ENSP00000355974.5:p.Arg336Gln
ENST00000638357.1:c.421G>A
ENST00000638498.1:c.1088G>A	ENSP00000490983.1:p.Arg363Gln
ENST00000638960.1:c.1007G>A	ENSP00000492302.1:p.Arg336Gln
ENST00000638983.1:c.952-58820G>A	ENSP00000492641.1:n.952-58820G>A
ENST00000639385.1:n.456G>A
ENST00000639602.1:c.878G>A	ENSP00000492303.1:p.Arg293Gln
ENST00000639754.1:n.1291G>A
ENST00000639952.1:c.1007G>A	ENSP00000492697.1:p.Arg336Gln
ENST00000640044.1:c.311-115848G>A	ENSP00000491434.1:n.311-115848G>A
ENST00000640243.1:c.951+98850G>A	ENSP00000492803.1:n.951+98850G>A
ENST00000640522.1:c.1032+98769G>A	ENSP00000491019.1:n.1032+98769G>A
ENST00000640528.1:c.1007G>A	ENSP00000491725.1:p.Arg336Gln
ENST00000640566.1:c.311-144470G>A	ENSP00000491302.1:n.311-144470G>A
ENST00000640710.1:c.1007G>A	ENSP00000492513.1:p.Arg336Gln
ENST00000640890.1:n.1109G>A
ENST00000271751.8:c.1088G>A	ENSP00000271751.4:p.Arg363Gln
ENST00000367007.4:c.1007G>A	ENSP00000355974.4:p.Arg336Gln
NM_002238.3:c.1007G>A	NP_002229.1:p.Arg336Gln
NM_172362.2:c.1088G>A	NP_758872.1:p.Arg363Gln
XM_011509514.1:c.-89G>A	XP_011507816.1:n.-89G>A
XM_017001246.1:c.-89G>A	XP_016856735.1:n.-89G>A
NM_172362.3:c.1088G>A MANE Select	NP_758872.1:p.Arg363Gln
NM_002238.4:c.1007G>A	NP_002229.1:p.Arg336Gln