Canonical Allele Identifier: CA039963

Gene: KCNH2

Linked Data

• dbSNP Id: rs773030045
• ExAC: 7:150655517 C / T
• gnomAD v2: 7-150655517-C-T
• gnomAD v4: 7-150958429-C-T
• MyVariant Identifiers: chr7:g.150655517C>T (hg19) ; chr7:g.150958429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958429C>T , CM000669.2:g.150958429C>T	GRCh38
NC_000007.13:g.150655517C>T , CM000669.1:g.150655517C>T	GRCh37
NC_000007.12:g.150286450C>T	NCBI36
NG_008916.1:g.24498G>A , LRG_288:g.24498G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1379G>A
ENST00000262186.10:c.546G>A MANE Select	ENSP00000262186.5:p.Ser182=
ENST00000262186.9:c.546G>A	ENSP00000262186.5:p.Ser182=
ENST00000430723.4:c.235-37G>A	ENSP00000387657.4:n.235-37G>A
ENST00000532957.5:n.769G>A
NM_000238.3:c.546G>A , LRG_288t1:c.546G>A	NP_000229.1:p.Ser182=
NM_172056.2:c.546G>A , LRG_288t2:c.546G>A	NP_742053.1:p.Ser182=
XM_011516185.1:c.246G>A	XP_011514487.1:p.Ser82=
XM_011516186.1:c.546G>A	XP_011514488.1:p.Ser182=
XM_011516185.2:c.246G>A	XP_011514487.1:p.Ser82=
XM_011516186.3:c.546G>A	XP_011514488.1:p.Ser182=
XM_017012195.1:c.396G>A	XP_016867684.1:p.Ser132=
XM_017012196.1:c.369G>A	XP_016867685.1:p.Ser123=
NM_000238.4:c.546G>A MANE Select	NP_000229.1:p.Ser182=