Canonical Allele Identifier: CA006073

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200400
• ClinVar RCV Id: RCV000181831 ; RCV000227185
• dbSNP Id: rs794728380
• gnomAD v4: 7-150951442-A-G
• MyVariant Identifiers: chr7:g.150648530A>G (hg19) ; chr7:g.150951442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951442A>G , CM000669.2:g.150951442A>G	GRCh38
NC_000007.13:g.150648530A>G , CM000669.1:g.150648530A>G	GRCh37
NC_000007.12:g.150279463A>G	NCBI36
NG_008916.1:g.31485T>C , LRG_288:g.31485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1243+6T>C
ENST00000683359.1:n.69+6T>C
ENST00000684241.1:n.2778+6T>C
ENST00000262186.10:c.1945+6T>C MANE Select	ENSP00000262186.5:n.1945+6T>C
ENST00000330883.9:c.925+6T>C	ENSP00000328531.4:n.925+6T>C
ENST00000262186.9:c.1945+6T>C	ENSP00000262186.5:n.1945+6T>C
ENST00000330883.8:c.925+6T>C	ENSP00000328531.4:n.925+6T>C
ENST00000430723.4:c.1597+6T>C	ENSP00000387657.4:n.1597+6T>C
ENST00000461280.1:n.1232+6T>C
ENST00000473610.5:n.1256T>C
ENST00000532957.5:n.2168+6T>C
NM_000238.3:c.1945+6T>C , LRG_288t1:c.1945+6T>C	NP_000229.1:n.1945+6T>C
NM_001204798.1:c.925+6T>C	NP_001191727.1:n.925+6T>C
NM_172056.2:c.1945+6T>C , LRG_288t2:c.1945+6T>C	NP_742053.1:n.1945+6T>C
NM_172057.2:c.925+6T>C , LRG_288t3:c.925+6T>C	NP_742054.1:n.925+6T>C
XM_011516185.1:c.1645+6T>C	XP_011514487.1:n.1645+6T>C
XM_011516186.1:c.1945+6T>C	XP_011514488.1:n.1945+6T>C
XM_011516185.2:c.1645+6T>C	XP_011514487.1:n.1645+6T>C
XM_011516186.3:c.1945+6T>C	XP_011514488.1:n.1945+6T>C
XM_017012195.1:c.1795+6T>C	XP_016867684.1:n.1795+6T>C
XM_017012196.1:c.1768+6T>C	XP_016867685.1:n.1768+6T>C
NM_000238.4:c.1945+6T>C MANE Select	NP_000229.1:n.1945+6T>C
NM_001204798.2:c.925+6T>C	NP_001191727.1:n.925+6T>C
NM_172057.3:c.925+6T>C	NP_742054.1:n.925+6T>C