Canonical Allele Identifier: CA369863346

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2976495
• ClinVar RCV Id: RCV003836645
• dbSNP Id: rs1801460053
• gnomAD v4: 7-150958425-C-T
• COSMIC: COSM5810675 ; COSM5810676
• MyVariant Identifiers: chr7:g.150655513C>T (hg19) ; chr7:g.150958425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958425C>T , CM000669.2:g.150958425C>T	GRCh38
NC_000007.13:g.150655513C>T , CM000669.1:g.150655513C>T	GRCh37
NC_000007.12:g.150286446C>T	NCBI36
NG_008916.1:g.24502G>A , LRG_288:g.24502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1383G>A
ENST00000262186.10:c.550G>A MANE Select	ENSP00000262186.5:p.Gly184Ser
ENST00000262186.9:c.550G>A	ENSP00000262186.5:p.Gly184Ser
ENST00000430723.4:c.235-33G>A	ENSP00000387657.4:n.235-33G>A
ENST00000532957.5:n.773G>A
NM_000238.3:c.550G>A , LRG_288t1:c.550G>A	NP_000229.1:p.Gly184Ser
NM_172056.2:c.550G>A , LRG_288t2:c.550G>A	NP_742053.1:p.Gly184Ser
XM_011516185.1:c.250G>A	XP_011514487.1:p.Gly84Ser
XM_011516186.1:c.550G>A	XP_011514488.1:p.Gly184Ser
XM_011516185.2:c.250G>A	XP_011514487.1:p.Gly84Ser
XM_011516186.3:c.550G>A	XP_011514488.1:p.Gly184Ser
XM_017012195.1:c.400G>A	XP_016867684.1:p.Gly134Ser
XM_017012196.1:c.373G>A	XP_016867685.1:p.Gly125Ser
NM_000238.4:c.550G>A MANE Select	NP_000229.1:p.Gly184Ser