Canonical Allele Identifier: CA458645162

Gene: KCNH2

Linked Data

• dbSNP Id: rs199473003
• gnomAD v2: 7-150646033-G-T
• gnomAD v4: 7-150948945-G-T
• MyVariant Identifiers: chr7:g.150646033G>T (hg19) ; chr7:g.150948945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948945G>T , CM000669.2:g.150948945G>T	GRCh38
NC_000007.13:g.150646033G>T , CM000669.1:g.150646033G>T	GRCh37
NC_000007.12:g.150276966G>T	NCBI36
NG_008916.1:g.33982C>A , LRG_288:g.33982C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3336C>A
ENST00000262186.10:c.2503C>A MANE Select	ENSP00000262186.5:p.Arg835=
ENST00000330883.9:c.1483C>A	ENSP00000328531.4:p.Arg495=
ENST00000262186.9:c.2503C>A	ENSP00000262186.5:p.Arg835=
ENST00000330883.8:c.1483C>A	ENSP00000328531.4:p.Arg495=
NM_000238.3:c.2503C>A , LRG_288t1:c.2503C>A	NP_000229.1:p.Arg835=
NM_172057.2:c.1483C>A , LRG_288t3:c.1483C>A	NP_742054.1:p.Arg495=
XM_011516185.1:c.2203C>A	XP_011514487.1:p.Arg735=
XM_011516186.1:c.2503C>A	XP_011514488.1:p.Arg835=
XM_011516185.2:c.2203C>A	XP_011514487.1:p.Arg735=
XM_011516186.3:c.2503C>A	XP_011514488.1:p.Arg835=
XM_017012195.1:c.2353C>A	XP_016867684.1:p.Arg785=
XM_017012196.1:c.2326C>A	XP_016867685.1:p.Arg776=
NM_000238.4:c.2503C>A MANE Select	NP_000229.1:p.Arg835=
NM_172057.3:c.1483C>A	NP_742054.1:p.Arg495=