Canonical Allele Identifier: CA458645188

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1588997
• ClinVar RCV Id: RCV002098631
• dbSNP Id: rs1460365886
• gnomAD v4: 7-150948985-A-G
• MyVariant Identifiers: chr7:g.150646073A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948985A>G , CM000669.2:g.150948985A>G	GRCh38
NC_000007.13:g.150646073A>G , CM000669.1:g.150646073A>G	GRCh37
NC_000007.12:g.150277006A>G	NCBI36
NG_008916.1:g.33942T>C , LRG_288:g.33942T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3296T>C
ENST00000262186.10:c.2463T>C MANE Select	ENSP00000262186.5:p.Asp821=
ENST00000330883.9:c.1443T>C	ENSP00000328531.4:p.Asp481=
ENST00000262186.9:c.2463T>C	ENSP00000262186.5:p.Asp821=
ENST00000330883.8:c.1443T>C	ENSP00000328531.4:p.Asp481=
NM_000238.3:c.2463T>C , LRG_288t1:c.2463T>C	NP_000229.1:p.Asp821=
NM_172057.2:c.1443T>C , LRG_288t3:c.1443T>C	NP_742054.1:p.Asp481=
XM_011516185.1:c.2163T>C	XP_011514487.1:p.Asp721=
XM_011516186.1:c.2463T>C	XP_011514488.1:p.Asp821=
XM_011516185.2:c.2163T>C	XP_011514487.1:p.Asp721=
XM_011516186.3:c.2463T>C	XP_011514488.1:p.Asp821=
XM_017012195.1:c.2313T>C	XP_016867684.1:p.Asp771=
XM_017012196.1:c.2286T>C	XP_016867685.1:p.Asp762=
NM_000238.4:c.2463T>C MANE Select	NP_000229.1:p.Asp821=
NM_172057.3:c.1443T>C	NP_742054.1:p.Asp481=