Canonical Allele Identifier: CA458870864

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2910694
• ClinVar RCV Id: RCV003649000
• dbSNP Id: rs1800974753
• gnomAD v4: 7-150947853-C-T
• MyVariant Identifiers: chr7:g.150644941C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947853C>T , CM000669.2:g.150947853C>T	GRCh38
NC_000007.13:g.150644941C>T , CM000669.1:g.150644941C>T	GRCh37
NC_000007.12:g.150275874C>T	NCBI36
NG_008916.1:g.35074G>A , LRG_288:g.35074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3551G>A
ENST00000262186.10:c.2718G>A MANE Select	ENSP00000262186.5:p.Ser906=
ENST00000330883.9:c.1698G>A	ENSP00000328531.4:p.Ser566=
ENST00000262186.9:c.2718G>A	ENSP00000262186.5:p.Ser906=
ENST00000330883.8:c.1698G>A	ENSP00000328531.4:p.Ser566=
NM_000238.3:c.2718G>A , LRG_288t1:c.2718G>A	NP_000229.1:p.Ser906=
NM_172057.2:c.1698G>A , LRG_288t3:c.1698G>A	NP_742054.1:p.Ser566=
XM_011516185.1:c.2418G>A	XP_011514487.1:p.Ser806=
XM_011516186.1:c.2693-162G>A	XP_011514488.1:n.2693-162G>A
XM_011516185.2:c.2418G>A	XP_011514487.1:p.Ser806=
XM_011516186.3:c.2693-162G>A	XP_011514488.1:n.2693-162G>A
XM_017012195.1:c.2568G>A	XP_016867684.1:p.Ser856=
XM_017012196.1:c.2541G>A	XP_016867685.1:p.Ser847=
NM_000238.4:c.2718G>A MANE Select	NP_000229.1:p.Ser906=
NM_172057.3:c.1698G>A	NP_742054.1:p.Ser566=