Canonical Allele Identifier: CA458644676

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1631628
• ClinVar RCV Id: RCV002114714
• dbSNP Id: rs2116925281
• MyVariant Identifiers: chr7:g.150644013C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946925C>G , CM000669.2:g.150946925C>G	GRCh38
NC_000007.13:g.150644013C>G , CM000669.1:g.150644013C>G	GRCh37
NC_000007.12:g.150274946C>G	NCBI36
NG_008916.1:g.36002G>C , LRG_288:g.36002G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4115G>C
ENST00000262186.10:c.3282G>C MANE Select	ENSP00000262186.5:p.Leu1094=
ENST00000330883.9:c.2262G>C	ENSP00000328531.4:p.Leu754=
ENST00000262186.9:c.3282G>C	ENSP00000262186.5:p.Leu1094=
ENST00000330883.8:c.2262G>C	ENSP00000328531.4:p.Leu754=
NM_000238.3:c.3282G>C , LRG_288t1:c.3282G>C	NP_000229.1:p.Leu1094=
NM_172057.2:c.2262G>C , LRG_288t3:c.2262G>C	NP_742054.1:p.Leu754=
XM_011516185.1:c.2982G>C	XP_011514487.1:p.Leu994=
XM_011516185.2:c.2982G>C	XP_011514487.1:p.Leu994=
XM_017012195.1:c.3132G>C	XP_016867684.1:p.Leu1044=
XM_017012196.1:c.3105G>C	XP_016867685.1:p.Leu1035=
NM_000238.4:c.3282G>C MANE Select	NP_000229.1:p.Leu1094=
NM_172057.3:c.2262G>C	NP_742054.1:p.Leu754=