Canonical Allele Identifier: CA458871224

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1335696
• ClinVar RCV Id: RCV001816484
• dbSNP Id: rs2116933675
• gnomAD v4: 7-150947808-G-T
• MyVariant Identifiers: chr7:g.150644896G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947808G>T , CM000669.2:g.150947808G>T	GRCh38
NC_000007.13:g.150644896G>T , CM000669.1:g.150644896G>T	GRCh37
NC_000007.12:g.150275829G>T	NCBI36
NG_008916.1:g.35119C>A , LRG_288:g.35119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3596C>A
ENST00000262186.10:c.2763C>A MANE Select	ENSP00000262186.5:p.Gly921=
ENST00000330883.9:c.1743C>A	ENSP00000328531.4:p.Gly581=
ENST00000262186.9:c.2763C>A	ENSP00000262186.5:p.Gly921=
ENST00000330883.8:c.1743C>A	ENSP00000328531.4:p.Gly581=
NM_000238.3:c.2763C>A , LRG_288t1:c.2763C>A	NP_000229.1:p.Gly921=
NM_172057.2:c.1743C>A , LRG_288t3:c.1743C>A	NP_742054.1:p.Gly581=
XM_011516185.1:c.2463C>A	XP_011514487.1:p.Gly821=
XM_011516186.1:c.2693-117C>A	XP_011514488.1:n.2693-117C>A
XM_011516185.2:c.2463C>A	XP_011514487.1:p.Gly821=
XM_011516186.3:c.2693-117C>A	XP_011514488.1:n.2693-117C>A
XM_017012195.1:c.2613C>A	XP_016867684.1:p.Gly871=
XM_017012196.1:c.2586C>A	XP_016867685.1:p.Gly862=
NM_000238.4:c.2763C>A MANE Select	NP_000229.1:p.Gly921=
NM_172057.3:c.1743C>A	NP_742054.1:p.Gly581=