Canonical Allele Identifier: CA369856690

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 922895
• ClinVar RCV Id: RCV001843153
• dbSNP Id: rs199472987
• gnomAD v2: 7-150647487-A-C
• gnomAD v3: 7-150950399-A-C
• gnomAD v4: 7-150950399-A-C
• MyVariant Identifiers: chr7:g.150647487A>C (hg19) ; chr7:g.150950399A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950399A>C , CM000669.2:g.150950399A>C	GRCh38
NC_000007.13:g.150647487A>C , CM000669.1:g.150647487A>C	GRCh37
NC_000007.12:g.150278420A>C	NCBI36
NG_008916.1:g.32528T>G , LRG_288:g.32528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1465T>G
ENST00000684241.1:n.3000T>G
ENST00000262186.10:c.2167T>G MANE Select	ENSP00000262186.5:p.Cys723Gly
ENST00000330883.9:c.1147T>G	ENSP00000328531.4:p.Cys383Gly
ENST00000262186.9:c.2167T>G	ENSP00000262186.5:p.Cys723Gly
ENST00000330883.8:c.1147T>G	ENSP00000328531.4:p.Cys383Gly
ENST00000430723.4:c.1819T>G	ENSP00000387657.4:p.Cys607Gly
ENST00000461280.1:n.1454T>G
ENST00000473610.5:n.1799T>G
ENST00000532957.5:n.2390T>G
NM_000238.3:c.2167T>G , LRG_288t1:c.2167T>G	NP_000229.1:p.Cys723Gly
NM_001204798.1:c.1147T>G	NP_001191727.1:p.Cys383Gly
NM_172056.2:c.2167T>G , LRG_288t2:c.2167T>G	NP_742053.1:p.Cys723Gly
NM_172057.2:c.1147T>G , LRG_288t3:c.1147T>G	NP_742054.1:p.Cys383Gly
XM_011516185.1:c.1867T>G	XP_011514487.1:p.Cys623Gly
XM_011516186.1:c.2167T>G	XP_011514488.1:p.Cys723Gly
XM_011516185.2:c.1867T>G	XP_011514487.1:p.Cys623Gly
XM_011516186.3:c.2167T>G	XP_011514488.1:p.Cys723Gly
XM_017012195.1:c.2017T>G	XP_016867684.1:p.Cys673Gly
XM_017012196.1:c.1990T>G	XP_016867685.1:p.Cys664Gly
NM_000238.4:c.2167T>G MANE Select	NP_000229.1:p.Cys723Gly
NM_001204798.2:c.1147T>G	NP_001191727.1:p.Cys383Gly
NM_172057.3:c.1147T>G	NP_742054.1:p.Cys383Gly