Canonical Allele Identifier: CA344874037

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 1493753
• ClinVar RCV Id: RCV002012724
• dbSNP Id: rs2102561757
• MyVariant Identifiers: chr1:g.211093343C>A (hg19) ; chr1:g.210920001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920001C>A , CM000663.2:g.210920001C>A	GRCh38
NC_000001.10:g.211093343C>A , CM000663.1:g.211093343C>A	GRCh37
NC_000001.9:g.209159966C>A	NCBI36
NG_029777.1:g.219115G>T
NG_029777.2:g.219115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1101G>T MANE Select	ENSP00000271751.4:p.Lys367Asn
ENST00000367007.5:c.1020G>T	ENSP00000355974.5:p.Lys340Asn
ENST00000638357.1:c.434G>T
ENST00000638498.1:c.1101G>T	ENSP00000490983.1:p.Lys367Asn
ENST00000638960.1:c.1020G>T	ENSP00000492302.1:p.Lys340Asn
ENST00000638983.1:c.952-58807G>T	ENSP00000492641.1:n.952-58807G>T
ENST00000639385.1:n.469G>T
ENST00000639602.1:c.891G>T	ENSP00000492303.1:p.Lys297Asn
ENST00000639754.1:n.1304G>T
ENST00000639952.1:c.1020G>T	ENSP00000492697.1:p.Lys340Asn
ENST00000640044.1:c.311-115835G>T	ENSP00000491434.1:n.311-115835G>T
ENST00000640243.1:c.951+98863G>T	ENSP00000492803.1:n.951+98863G>T
ENST00000640522.1:c.1032+98782G>T	ENSP00000491019.1:n.1032+98782G>T
ENST00000640528.1:c.1020G>T	ENSP00000491725.1:p.Lys340Asn
ENST00000640566.1:c.311-144457G>T	ENSP00000491302.1:n.311-144457G>T
ENST00000640710.1:c.1020G>T	ENSP00000492513.1:p.Lys340Asn
ENST00000640890.1:n.1122G>T
ENST00000271751.8:c.1101G>T	ENSP00000271751.4:p.Lys367Asn
ENST00000367007.4:c.1020G>T	ENSP00000355974.4:p.Lys340Asn
NM_002238.3:c.1020G>T	NP_002229.1:p.Lys340Asn
NM_172362.2:c.1101G>T	NP_758872.1:p.Lys367Asn
XM_011509514.1:c.-76G>T	XP_011507816.1:n.-76G>T
XM_017001246.1:c.-76G>T	XP_016856735.1:n.-76G>T
NM_172362.3:c.1101G>T MANE Select	NP_758872.1:p.Lys367Asn
NM_002238.4:c.1020G>T	NP_002229.1:p.Lys340Asn