Canonical Allele Identifier: CA040708

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 943502
• ClinVar RCV Id: RCV001213701
• dbSNP Id: rs781669869
• ExAC: 7:150655225 G / A
• gnomAD v2: 7-150655225-G-A
• gnomAD v4: 7-150958137-G-A
• MyVariant Identifiers: chr7:g.150655225G>A (hg19) ; chr7:g.150958137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958137G>A , CM000669.2:g.150958137G>A	GRCh38
NC_000007.13:g.150655225G>A , CM000669.1:g.150655225G>A	GRCh37
NC_000007.12:g.150286158G>A	NCBI36
NG_008916.1:g.24790C>T , LRG_288:g.24790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1671C>T
ENST00000262186.10:c.838C>T MANE Select	ENSP00000262186.5:p.Arg280Cys
ENST00000262186.9:c.838C>T	ENSP00000262186.5:p.Arg280Cys
ENST00000430723.4:c.490C>T	ENSP00000387657.4:p.Arg164Cys
ENST00000532957.5:n.1061C>T
NM_000238.3:c.838C>T , LRG_288t1:c.838C>T	NP_000229.1:p.Arg280Cys
NM_172056.2:c.838C>T , LRG_288t2:c.838C>T	NP_742053.1:p.Arg280Cys
XM_011516185.1:c.538C>T	XP_011514487.1:p.Arg180Cys
XM_011516186.1:c.838C>T	XP_011514488.1:p.Arg280Cys
XM_011516185.2:c.538C>T	XP_011514487.1:p.Arg180Cys
XM_011516186.3:c.838C>T	XP_011514488.1:p.Arg280Cys
XM_017012195.1:c.688C>T	XP_016867684.1:p.Arg230Cys
XM_017012196.1:c.661C>T	XP_016867685.1:p.Arg221Cys
NM_000238.4:c.838C>T MANE Select	NP_000229.1:p.Arg280Cys