Canonical Allele Identifier: CA458872294

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 911915
• ClinVar RCV Id: RCV001231582 ; RCV001164707 ; RCV002497593 ; RCV002365811
• dbSNP Id: rs1350217087
• gnomAD v2: 7-150655379-C-T
• gnomAD v3: 7-150958291-C-T
• gnomAD v4: 7-150958291-C-T
• MyVariant Identifiers: chr7:g.150655379C>T (hg19) ; chr7:g.150958291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958291C>T , CM000669.2:g.150958291C>T	GRCh38
NC_000007.13:g.150655379C>T , CM000669.1:g.150655379C>T	GRCh37
NC_000007.12:g.150286312C>T	NCBI36
NG_008916.1:g.24636G>A , LRG_288:g.24636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1517G>A
ENST00000262186.10:c.684G>A MANE Select	ENSP00000262186.5:p.Ala228=
ENST00000262186.9:c.684G>A	ENSP00000262186.5:p.Ala228=
ENST00000430723.4:c.336G>A	ENSP00000387657.4:p.Ala112=
ENST00000532957.5:n.907G>A
NM_000238.3:c.684G>A , LRG_288t1:c.684G>A	NP_000229.1:p.Ala228=
NM_172056.2:c.684G>A , LRG_288t2:c.684G>A	NP_742053.1:p.Ala228=
XM_011516185.1:c.384G>A	XP_011514487.1:p.Ala128=
XM_011516186.1:c.684G>A	XP_011514488.1:p.Ala228=
XM_011516185.2:c.384G>A	XP_011514487.1:p.Ala128=
XM_011516186.3:c.684G>A	XP_011514488.1:p.Ala228=
XM_017012195.1:c.534G>A	XP_016867684.1:p.Ala178=
XM_017012196.1:c.507G>A	XP_016867685.1:p.Ala169=
NM_000238.4:c.684G>A MANE Select	NP_000229.1:p.Ala228=