Canonical Allele Identifier: CA037004

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456920
• ClinVar RCV Id: RCV000546988 ; RCV001841439
• dbSNP Id: rs750858069
• ExAC: 7:150644470 C / T
• gnomAD v2: 7-150644470-C-T
• gnomAD v3: 7-150947382-C-T
• gnomAD v4: 7-150947382-C-T
• MyVariant Identifiers: chr7:g.150644470C>T (hg19) ; chr7:g.150947382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947382C>T , CM000669.2:g.150947382C>T	GRCh38
NC_000007.13:g.150644470C>T , CM000669.1:g.150644470C>T	GRCh37
NC_000007.12:g.150275403C>T	NCBI36
NG_008916.1:g.35545G>A , LRG_288:g.35545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3931G>A
ENST00000262186.10:c.3098G>A MANE Select	ENSP00000262186.5:p.Arg1033Gln
ENST00000330883.9:c.2078G>A	ENSP00000328531.4:p.Arg693Gln
ENST00000262186.9:c.3098G>A	ENSP00000262186.5:p.Arg1033Gln
ENST00000330883.8:c.2078G>A	ENSP00000328531.4:p.Arg693Gln
NM_000238.3:c.3098G>A , LRG_288t1:c.3098G>A	NP_000229.1:p.Arg1033Gln
NM_172057.2:c.2078G>A , LRG_288t3:c.2078G>A	NP_742054.1:p.Arg693Gln
XM_011516185.1:c.2798G>A	XP_011514487.1:p.Arg933Gln
XM_011516185.2:c.2798G>A	XP_011514487.1:p.Arg933Gln
XM_017012195.1:c.2948G>A	XP_016867684.1:p.Arg983Gln
XM_017012196.1:c.2921G>A	XP_016867685.1:p.Arg974Gln
NM_000238.4:c.3098G>A MANE Select	NP_000229.1:p.Arg1033Gln
NM_172057.3:c.2078G>A	NP_742054.1:p.Arg693Gln