Canonical Allele Identifier: CA006674

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200446
• ClinVar RCV Id: RCV003298232 ; RCV000703830
• dbSNP Id: rs1554425149
• gnomAD v4: 7-150950163-C-A
• MyVariant Identifiers: chr7:g.150647251C>A (hg19) ; chr7:g.150950163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950163C>A , CM000669.2:g.150950163C>A	GRCh38
NC_000007.13:g.150647251C>A , CM000669.1:g.150647251C>A	GRCh37
NC_000007.12:g.150278184C>A	NCBI36
NG_008916.1:g.32764G>T , LRG_288:g.32764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1701G>T
ENST00000684241.1:n.3231+5G>T
ENST00000262186.10:c.2398+5G>T MANE Select	ENSP00000262186.5:n.2398+5G>T
ENST00000330883.9:c.1378+5G>T	ENSP00000328531.4:n.1378+5G>T
ENST00000262186.9:c.2398+5G>T	ENSP00000262186.5:n.2398+5G>T
ENST00000330883.8:c.1378+5G>T	ENSP00000328531.4:n.1378+5G>T
ENST00000430723.4:c.2055G>T	ENSP00000387657.4:p.Met685Ile
ENST00000461280.1:n.1690G>T
ENST00000473610.5:n.2035G>T
ENST00000532957.5:n.2626G>T
NM_000238.3:c.2398+5G>T , LRG_288t1:c.2398+5G>T	NP_000229.1:n.2398+5G>T
NM_001204798.1:c.1383G>T	NP_001191727.1:p.Met461Ile
NM_172056.2:c.2403G>T , LRG_288t2:c.2403G>T	NP_742053.1:p.Met801Ile
NM_172057.2:c.1378+5G>T , LRG_288t3:c.1378+5G>T	NP_742054.1:n.1378+5G>T
XM_011516185.1:c.2098+5G>T	XP_011514487.1:n.2098+5G>T
XM_011516186.1:c.2398+5G>T	XP_011514488.1:n.2398+5G>T
XM_011516185.2:c.2098+5G>T	XP_011514487.1:n.2098+5G>T
XM_011516186.3:c.2398+5G>T	XP_011514488.1:n.2398+5G>T
XM_017012195.1:c.2248+5G>T	XP_016867684.1:n.2248+5G>T
XM_017012196.1:c.2221+5G>T	XP_016867685.1:n.2221+5G>T
NM_000238.4:c.2398+5G>T MANE Select	NP_000229.1:n.2398+5G>T
NM_001204798.2:c.1383G>T	NP_001191727.1:p.Met461Ile
NM_172057.3:c.1378+5G>T	NP_742054.1:n.1378+5G>T