Canonical Allele Identifier: CA169081389

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2694254
• ClinVar RCV Id: RCV003533892
• dbSNP Id: rs980503480
• gnomAD v4: 7-150958348-C-A
• MyVariant Identifiers: chr7:g.150655436C>A (hg19) ; chr7:g.150958348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958348C>A , CM000669.2:g.150958348C>A	GRCh38
NC_000007.13:g.150655436C>A , CM000669.1:g.150655436C>A	GRCh37
NC_000007.12:g.150286369C>A	NCBI36
NG_008916.1:g.24579G>T , LRG_288:g.24579G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1460G>T
ENST00000262186.10:c.627G>T MANE Select	ENSP00000262186.5:p.Ser209=
ENST00000262186.9:c.627G>T	ENSP00000262186.5:p.Ser209=
ENST00000430723.4:c.279G>T	ENSP00000387657.4:p.Ser93=
ENST00000532957.5:n.850G>T
NM_000238.3:c.627G>T , LRG_288t1:c.627G>T	NP_000229.1:p.Ser209=
NM_172056.2:c.627G>T , LRG_288t2:c.627G>T	NP_742053.1:p.Ser209=
XM_011516185.1:c.327G>T	XP_011514487.1:p.Ser109=
XM_011516186.1:c.627G>T	XP_011514488.1:p.Ser209=
XM_011516185.2:c.327G>T	XP_011514487.1:p.Ser109=
XM_011516186.3:c.627G>T	XP_011514488.1:p.Ser209=
XM_017012195.1:c.477G>T	XP_016867684.1:p.Ser159=
XM_017012196.1:c.450G>T	XP_016867685.1:p.Ser150=
NM_000238.4:c.627G>T MANE Select	NP_000229.1:p.Ser209=