Canonical Allele Identifier: CA030859

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1243751
• ClinVar RCV Id: RCV001645912
• dbSNP Id: rs41314372
• ExAC: 7:150647994 C / A
• gnomAD v2: 7-150647994-C-A
• gnomAD v3: 7-150950906-C-A
• gnomAD v4: 7-150950906-C-A
• MyVariant Identifiers: chr7:g.150647994C>A (hg19) ; chr7:g.150950906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950906C>A , CM000669.2:g.150950906C>A	GRCh38
NC_000007.13:g.150647994C>A , CM000669.1:g.150647994C>A	GRCh37
NC_000007.12:g.150278927C>A	NCBI36
NG_008916.1:g.32021G>T , LRG_288:g.32021G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+15G>T
ENST00000683359.1:n.284G>T
ENST00000684241.1:n.2978+15G>T
ENST00000262186.10:c.2145+15G>T MANE Select	ENSP00000262186.5:n.2145+15G>T
ENST00000330883.9:c.1125+15G>T	ENSP00000328531.4:n.1125+15G>T
ENST00000262186.9:c.2145+15G>T	ENSP00000262186.5:n.2145+15G>T
ENST00000330883.8:c.1125+15G>T	ENSP00000328531.4:n.1125+15G>T
ENST00000430723.4:c.1797+15G>T	ENSP00000387657.4:n.1797+15G>T
ENST00000461280.1:n.1432+15G>T
ENST00000473610.5:n.1777+15G>T
ENST00000532957.5:n.2368+15G>T
NM_000238.3:c.2145+15G>T , LRG_288t1:c.2145+15G>T	NP_000229.1:n.2145+15G>T
NM_001204798.1:c.1125+15G>T	NP_001191727.1:n.1125+15G>T
NM_172056.2:c.2145+15G>T , LRG_288t2:c.2145+15G>T	NP_742053.1:n.2145+15G>T
NM_172057.2:c.1125+15G>T , LRG_288t3:c.1125+15G>T	NP_742054.1:n.1125+15G>T
XM_011516185.1:c.1845+15G>T	XP_011514487.1:n.1845+15G>T
XM_011516186.1:c.2145+15G>T	XP_011514488.1:n.2145+15G>T
XM_011516185.2:c.1845+15G>T	XP_011514487.1:n.1845+15G>T
XM_011516186.3:c.2145+15G>T	XP_011514488.1:n.2145+15G>T
XM_017012195.1:c.1995+15G>T	XP_016867684.1:n.1995+15G>T
XM_017012196.1:c.1968+15G>T	XP_016867685.1:n.1968+15G>T
NM_000238.4:c.2145+15G>T MANE Select	NP_000229.1:n.2145+15G>T
NM_001204798.2:c.1125+15G>T	NP_001191727.1:n.1125+15G>T
NM_172057.3:c.1125+15G>T	NP_742054.1:n.1125+15G>T