Canonical Allele Identifier: CA030260

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 413326
• ClinVar RCV Id: RCV001087372 ; RCV001841372 ; RCV002418444
• dbSNP Id: rs774258761
• ExAC: 7:150648174 C / T
• gnomAD v2: 7-150648174-C-T
• gnomAD v3: 7-150951086-C-T
• gnomAD v4: 7-150951086-C-T
• COSMIC: COSM1087285 ; COSM1596878 ; COSM4864197
• MyVariant Identifiers: chr7:g.150648174C>T (hg19) ; chr7:g.150951086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951086C>T , CM000669.2:g.150951086C>T	GRCh38
NC_000007.13:g.150648174C>T , CM000669.1:g.150648174C>T	GRCh37
NC_000007.12:g.150279107C>T	NCBI36
NG_008916.1:g.31841G>A , LRG_288:g.31841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1278G>A
ENST00000683359.1:n.104G>A
ENST00000684241.1:n.2813G>A
ENST00000262186.10:c.1980G>A MANE Select	ENSP00000262186.5:p.Ser660=
ENST00000330883.9:c.960G>A	ENSP00000328531.4:p.Ser320=
ENST00000262186.9:c.1980G>A	ENSP00000262186.5:p.Ser660=
ENST00000330883.8:c.960G>A	ENSP00000328531.4:p.Ser320=
ENST00000430723.4:c.1632G>A	ENSP00000387657.4:p.Ser544=
ENST00000461280.1:n.1267G>A
ENST00000473610.5:n.1612G>A
ENST00000532957.5:n.2203G>A
NM_000238.3:c.1980G>A , LRG_288t1:c.1980G>A	NP_000229.1:p.Ser660=
NM_001204798.1:c.960G>A	NP_001191727.1:p.Ser320=
NM_172056.2:c.1980G>A , LRG_288t2:c.1980G>A	NP_742053.1:p.Ser660=
NM_172057.2:c.960G>A , LRG_288t3:c.960G>A	NP_742054.1:p.Ser320=
XM_011516185.1:c.1680G>A	XP_011514487.1:p.Ser560=
XM_011516186.1:c.1980G>A	XP_011514488.1:p.Ser660=
XM_011516185.2:c.1680G>A	XP_011514487.1:p.Ser560=
XM_011516186.3:c.1980G>A	XP_011514488.1:p.Ser660=
XM_017012195.1:c.1830G>A	XP_016867684.1:p.Ser610=
XM_017012196.1:c.1803G>A	XP_016867685.1:p.Ser601=
NM_000238.4:c.1980G>A MANE Select	NP_000229.1:p.Ser660=
NM_001204798.2:c.960G>A	NP_001191727.1:p.Ser320=
NM_172057.3:c.960G>A	NP_742054.1:p.Ser320=