Canonical Allele Identifier: CA036072

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2039611
• ClinVar RCV Id: RCV002900025
• dbSNP Id: rs758146526
• ExAC: 7:150644622 C / T
• gnomAD v2: 7-150644622-C-T
• gnomAD v3: 7-150947534-C-T
• gnomAD v4: 7-150947534-C-T
• MyVariant Identifiers: chr7:g.150644622C>T (hg19) ; chr7:g.150947534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947534C>T , CM000669.2:g.150947534C>T	GRCh38
NC_000007.13:g.150644622C>T , CM000669.1:g.150644622C>T	GRCh37
NC_000007.12:g.150275555C>T	NCBI36
NG_008916.1:g.35393G>A , LRG_288:g.35393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3799-20G>A
ENST00000262186.10:c.2966-20G>A MANE Select	ENSP00000262186.5:n.2966-20G>A
ENST00000330883.9:c.1946-20G>A	ENSP00000328531.4:n.1946-20G>A
ENST00000262186.9:c.2966-20G>A	ENSP00000262186.5:n.2966-20G>A
ENST00000330883.8:c.1946-20G>A	ENSP00000328531.4:n.1946-20G>A
NM_000238.3:c.2966-20G>A , LRG_288t1:c.2966-20G>A	NP_000229.1:n.2966-20G>A
NM_172057.2:c.1946-20G>A , LRG_288t3:c.1946-20G>A	NP_742054.1:n.1946-20G>A
XM_011516185.1:c.2666-20G>A	XP_011514487.1:n.2666-20G>A
XM_011516186.1:c.*46-20G>A	XP_011514488.1:n.*46-20G>A
XM_011516185.2:c.2666-20G>A	XP_011514487.1:n.2666-20G>A
XM_011516186.3:c.*46-20G>A	XP_011514488.1:n.*46-20G>A
XM_017012195.1:c.2816-20G>A	XP_016867684.1:n.2816-20G>A
XM_017012196.1:c.2789-20G>A	XP_016867685.1:n.2789-20G>A
NM_000238.4:c.2966-20G>A MANE Select	NP_000229.1:n.2966-20G>A
NM_172057.3:c.1946-20G>A	NP_742054.1:n.1946-20G>A