Canonical Allele Identifier: CA036266
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 629744
ClinVar RCV Id: RCV000960763 RCV001701441 RCV001841953
dbSNP Id: rs761176105
ExAC: 7:150671806 C / A
gnomAD v2: 7-150671806-C-A
gnomAD v3: 7-150974718-C-A
gnomAD v4: 7-150974718-C-A
MyVariant Identifiers: chr7:g.150671806C>A (hg19) chr7:g.150974718C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974718C>A , CM000669.2:g.150974718C>A GRCh38
NC_000007.13:g.150671806C>A , CM000669.1:g.150671806C>A GRCh37
NC_000007.12:g.150302739C>A NCBI36
NG_008916.1:g.8209G>T , LRG_288:g.8209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.300G>T MANE Select ENSP00000262186.5:p.Arg100=
ENST00000262186.9:c.300G>T ENSP00000262186.5:p.Arg100=
ENST00000430723.4:c.123G>T ENSP00000387657.4:p.Arg41=
ENST00000532957.5:n.523G>T
NM_000238.3:c.300G>T , LRG_288t1:c.300G>T NP_000229.1:p.Arg100=
NM_172056.2:c.300G>T , LRG_288t2:c.300G>T NP_742053.1:p.Arg100=
XM_011516186.1:c.300G>T XP_011514488.1:p.Arg100=
XM_011516186.3:c.300G>T XP_011514488.1:p.Arg100=
XM_017012196.1:c.123G>T XP_016867685.1:p.Arg41=
NM_000238.4:c.300G>T MANE Select NP_000229.1:p.Arg100=
Search 100 bp 5'
Search 100 bp 3'