Canonical Allele Identifier: CA029959

Gene: KCNH2

Linked Data

• dbSNP Id: rs771996594
• ExAC: 7:150648499 T / C
• gnomAD v3: 7-150951411-T-C
• gnomAD v4: 7-150951411-T-C
• MyVariant Identifiers: chr7:g.150648499T>C (hg19) ; chr7:g.150951411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951411T>C , CM000669.2:g.150951411T>C	GRCh38
NC_000007.13:g.150648499T>C , CM000669.1:g.150648499T>C	GRCh37
NC_000007.12:g.150279432T>C	NCBI36
NG_008916.1:g.31516A>G , LRG_288:g.31516A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1243+37A>G
ENST00000683359.1:n.69+37A>G
ENST00000684241.1:n.2778+37A>G
ENST00000262186.10:c.1945+37A>G MANE Select	ENSP00000262186.5:n.1945+37A>G
ENST00000330883.9:c.925+37A>G	ENSP00000328531.4:n.925+37A>G
ENST00000262186.9:c.1945+37A>G	ENSP00000262186.5:n.1945+37A>G
ENST00000330883.8:c.925+37A>G	ENSP00000328531.4:n.925+37A>G
ENST00000430723.4:c.1597+37A>G	ENSP00000387657.4:n.1597+37A>G
ENST00000461280.1:n.1232+37A>G
ENST00000473610.5:n.1287A>G
ENST00000532957.5:n.2168+37A>G
NM_000238.3:c.1945+37A>G , LRG_288t1:c.1945+37A>G	NP_000229.1:n.1945+37A>G
NM_001204798.1:c.925+37A>G	NP_001191727.1:n.925+37A>G
NM_172056.2:c.1945+37A>G , LRG_288t2:c.1945+37A>G	NP_742053.1:n.1945+37A>G
NM_172057.2:c.925+37A>G , LRG_288t3:c.925+37A>G	NP_742054.1:n.925+37A>G
XM_011516185.1:c.1645+37A>G	XP_011514487.1:n.1645+37A>G
XM_011516186.1:c.1945+37A>G	XP_011514488.1:n.1945+37A>G
XM_011516185.2:c.1645+37A>G	XP_011514487.1:n.1645+37A>G
XM_011516186.3:c.1945+37A>G	XP_011514488.1:n.1945+37A>G
XM_017012195.1:c.1795+37A>G	XP_016867684.1:n.1795+37A>G
XM_017012196.1:c.1768+37A>G	XP_016867685.1:n.1768+37A>G
NM_000238.4:c.1945+37A>G MANE Select	NP_000229.1:n.1945+37A>G
NM_001204798.2:c.925+37A>G	NP_001191727.1:n.925+37A>G
NM_172057.3:c.925+37A>G	NP_742054.1:n.925+37A>G