Canonical Allele Identifier: CA027347

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1749523
• ClinVar RCV Id: RCV002359631
• dbSNP Id: rs777464179
• ExAC: 7:150649861 G / A
• gnomAD v2: 7-150649861-G-A
• gnomAD v4: 7-150952773-G-A
• COSMIC: COSM5572555 ; COSM5572556 ; COSM5572557
• MyVariant Identifiers: chr7:g.150649861G>A (hg19) ; chr7:g.150952773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952773G>A , CM000669.2:g.150952773G>A	GRCh38
NC_000007.13:g.150649861G>A , CM000669.1:g.150649861G>A	GRCh37
NC_000007.12:g.150280794G>A	NCBI36
NG_008916.1:g.30154C>T , LRG_288:g.30154C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.507C>T
ENST00000684116.1:n.102C>T
ENST00000684241.1:n.2042C>T
ENST00000262186.10:c.1209C>T MANE Select	ENSP00000262186.5:p.Tyr403=
ENST00000330883.9:c.189C>T	ENSP00000328531.4:p.Tyr63=
ENST00000262186.9:c.1209C>T	ENSP00000262186.5:p.Tyr403=
ENST00000330883.8:c.189C>T	ENSP00000328531.4:p.Tyr63=
ENST00000430723.4:c.861C>T	ENSP00000387657.4:p.Tyr287=
ENST00000461280.1:n.496C>T
ENST00000473610.5:n.514C>T
ENST00000532957.5:n.1432C>T
NM_000238.3:c.1209C>T , LRG_288t1:c.1209C>T	NP_000229.1:p.Tyr403=
NM_001204798.1:c.189C>T	NP_001191727.1:p.Tyr63=
NM_172056.2:c.1209C>T , LRG_288t2:c.1209C>T	NP_742053.1:p.Tyr403=
NM_172057.2:c.189C>T , LRG_288t3:c.189C>T	NP_742054.1:p.Tyr63=
XM_011516185.1:c.909C>T	XP_011514487.1:p.Tyr303=
XM_011516186.1:c.1209C>T	XP_011514488.1:p.Tyr403=
XM_011516185.2:c.909C>T	XP_011514487.1:p.Tyr303=
XM_011516186.3:c.1209C>T	XP_011514488.1:p.Tyr403=
XM_017012195.1:c.1059C>T	XP_016867684.1:p.Tyr353=
XM_017012196.1:c.1032C>T	XP_016867685.1:p.Tyr344=
NM_000238.4:c.1209C>T MANE Select	NP_000229.1:p.Tyr403=
NM_001204798.2:c.189C>T	NP_001191727.1:p.Tyr63=
NM_172057.3:c.189C>T	NP_742054.1:p.Tyr63=