Canonical Allele Identifier: CA008733

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200301
• ClinVar RCV Id: RCV000181766 ; RCV002390453
• dbSNP Id: rs794728360
• gnomAD v4: 7-150958226-G-T
• MyVariant Identifiers: chr7:g.150655314G>T (hg19) ; chr7:g.150958226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958226G>T , CM000669.2:g.150958226G>T	GRCh38
NC_000007.13:g.150655314G>T , CM000669.1:g.150655314G>T	GRCh37
NC_000007.12:g.150286247G>T	NCBI36
NG_008916.1:g.24701C>A , LRG_288:g.24701C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1582C>A
ENST00000262186.10:c.749C>A MANE Select	ENSP00000262186.5:p.Ser250Ter
ENST00000262186.9:c.749C>A	ENSP00000262186.5:p.Ser250Ter
ENST00000430723.4:c.401C>A	ENSP00000387657.4:p.Ser134Ter
ENST00000532957.5:n.972C>A
NM_000238.3:c.749C>A , LRG_288t1:c.749C>A	NP_000229.1:p.Ser250Ter
NM_172056.2:c.749C>A , LRG_288t2:c.749C>A	NP_742053.1:p.Ser250Ter
XM_011516185.1:c.449C>A	XP_011514487.1:p.Ser150Ter
XM_011516186.1:c.749C>A	XP_011514488.1:p.Ser250Ter
XM_011516185.2:c.449C>A	XP_011514487.1:p.Ser150Ter
XM_011516186.3:c.749C>A	XP_011514488.1:p.Ser250Ter
XM_017012195.1:c.599C>A	XP_016867684.1:p.Ser200Ter
XM_017012196.1:c.572C>A	XP_016867685.1:p.Ser191Ter
NM_000238.4:c.749C>A MANE Select	NP_000229.1:p.Ser250Ter