Canonical Allele Identifier: CA169073092

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1290651
• ClinVar RCV Id: RCV001716664 ; RCV003647849
• dbSNP Id: rs964660781
• gnomAD v2: 7-150645514-T-C
• gnomAD v3: 7-150948426-T-C
• gnomAD v4: 7-150948426-T-C
• MyVariant Identifiers: chr7:g.150645514T>C (hg19) ; chr7:g.150948426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948426T>C , CM000669.2:g.150948426T>C	GRCh38
NC_000007.13:g.150645514T>C , CM000669.1:g.150645514T>C	GRCh37
NC_000007.12:g.150276447T>C	NCBI36
NG_008916.1:g.34501A>G , LRG_288:g.34501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+18A>G
ENST00000262186.10:c.2692+18A>G MANE Select	ENSP00000262186.5:n.2692+18A>G
ENST00000330883.9:c.1672+18A>G	ENSP00000328531.4:n.1672+18A>G
ENST00000262186.9:c.2692+18A>G	ENSP00000262186.5:n.2692+18A>G
ENST00000330883.8:c.1672+18A>G	ENSP00000328531.4:n.1672+18A>G
NM_000238.3:c.2692+18A>G , LRG_288t1:c.2692+18A>G	NP_000229.1:n.2692+18A>G
NM_172057.2:c.1672+18A>G , LRG_288t3:c.1672+18A>G	NP_742054.1:n.1672+18A>G
XM_011516185.1:c.2392+18A>G	XP_011514487.1:n.2392+18A>G
XM_011516186.1:c.2692+18A>G	XP_011514488.1:n.2692+18A>G
XM_011516185.2:c.2392+18A>G	XP_011514487.1:n.2392+18A>G
XM_011516186.3:c.2692+18A>G	XP_011514488.1:n.2692+18A>G
XM_017012195.1:c.2542+18A>G	XP_016867684.1:n.2542+18A>G
XM_017012196.1:c.2515+18A>G	XP_016867685.1:n.2515+18A>G
NM_000238.4:c.2692+18A>G MANE Select	NP_000229.1:n.2692+18A>G
NM_172057.3:c.1672+18A>G	NP_742054.1:n.1672+18A>G