Canonical Allele Identifier: CA027150

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 929251
• ClinVar RCV Id: RCV001194448 ; RCV001540183 ; RCV002069259
• dbSNP Id: rs78794789
• ExAC: 7:150649959 G / A
• gnomAD v2: 7-150649959-G-A
• gnomAD v3: 7-150952871-G-A
• gnomAD v4: 7-150952871-G-A
• MyVariant Identifiers: chr7:g.150649959G>A (hg19) ; chr7:g.150952871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952871G>A , CM000669.2:g.150952871G>A	GRCh38
NC_000007.13:g.150649959G>A , CM000669.1:g.150649959G>A	GRCh37
NC_000007.12:g.150280892G>A	NCBI36
NG_008916.1:g.30056C>T , LRG_288:g.30056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.427-18C>T
ENST00000684116.1:n.4C>T
ENST00000684241.1:n.1962-18C>T
ENST00000262186.10:c.1129-18C>T MANE Select	ENSP00000262186.5:n.1129-18C>T
ENST00000330883.9:c.109-18C>T	ENSP00000328531.4:n.109-18C>T
ENST00000262186.9:c.1129-18C>T	ENSP00000262186.5:n.1129-18C>T
ENST00000330883.8:c.109-18C>T	ENSP00000328531.4:n.109-18C>T
ENST00000430723.4:c.781-18C>T	ENSP00000387657.4:n.781-18C>T
ENST00000461280.1:n.416-18C>T
ENST00000473610.5:n.434-18C>T
ENST00000532957.5:n.1352-18C>T
NM_000238.3:c.1129-18C>T , LRG_288t1:c.1129-18C>T	NP_000229.1:n.1129-18C>T
NM_001204798.1:c.109-18C>T	NP_001191727.1:n.109-18C>T
NM_172056.2:c.1129-18C>T , LRG_288t2:c.1129-18C>T	NP_742053.1:n.1129-18C>T
NM_172057.2:c.109-18C>T , LRG_288t3:c.109-18C>T	NP_742054.1:n.109-18C>T
XM_011516185.1:c.829-18C>T	XP_011514487.1:n.829-18C>T
XM_011516186.1:c.1129-18C>T	XP_011514488.1:n.1129-18C>T
XM_011516185.2:c.829-18C>T	XP_011514487.1:n.829-18C>T
XM_011516186.3:c.1129-18C>T	XP_011514488.1:n.1129-18C>T
XM_017012195.1:c.979-18C>T	XP_016867684.1:n.979-18C>T
XM_017012196.1:c.952-18C>T	XP_016867685.1:n.952-18C>T
NM_000238.4:c.1129-18C>T MANE Select	NP_000229.1:n.1129-18C>T
NM_001204798.2:c.109-18C>T	NP_001191727.1:n.109-18C>T
NM_172057.3:c.109-18C>T	NP_742054.1:n.109-18C>T