Canonical Allele Identifier: CA369863835

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2058854
• ClinVar RCV Id: RCV002952494 ; RCV003591973
• dbSNP Id: rs1288219855
• gnomAD v2: 7-150656778-C-G
• gnomAD v4: 7-150959690-C-G
• MyVariant Identifiers: chr7:g.150656778C>G (hg19) ; chr7:g.150959690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959690C>G , CM000669.2:g.150959690C>G	GRCh38
NC_000007.13:g.150656778C>G , CM000669.1:g.150656778C>G	GRCh37
NC_000007.12:g.150287711C>G	NCBI36
NG_008916.1:g.23237G>C , LRG_288:g.23237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1187G>C
ENST00000262186.10:c.354G>C MANE Select	ENSP00000262186.5:p.Glu118Asp
ENST00000262186.9:c.354G>C	ENSP00000262186.5:p.Glu118Asp
ENST00000430723.4:c.177G>C	ENSP00000387657.4:p.Glu59Asp
ENST00000532957.5:n.577G>C
NM_000238.3:c.354G>C , LRG_288t1:c.354G>C	NP_000229.1:p.Glu118Asp
NM_172056.2:c.354G>C , LRG_288t2:c.354G>C	NP_742053.1:p.Glu118Asp
XM_011516185.1:c.54G>C	XP_011514487.1:p.Glu18Asp
XM_011516186.1:c.354G>C	XP_011514488.1:p.Glu118Asp
XM_011516185.2:c.54G>C	XP_011514487.1:p.Glu18Asp
XM_011516186.3:c.354G>C	XP_011514488.1:p.Glu118Asp
XM_017012195.1:c.204G>C	XP_016867684.1:p.Glu68Asp
XM_017012196.1:c.177G>C	XP_016867685.1:p.Glu59Asp
NM_000238.4:c.354G>C MANE Select	NP_000229.1:p.Glu118Asp