Canonical Allele Identifier: CA458646795

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1371184
• ClinVar RCV Id: RCV001878871 ; RCV002343936
• dbSNP Id: rs1480710402
• gnomAD v2: 7-150655511-G-A
• gnomAD v4: 7-150958423-G-A
• MyVariant Identifiers: chr7:g.150655511G>A (hg19) ; chr7:g.150958423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958423G>A , CM000669.2:g.150958423G>A	GRCh38
NC_000007.13:g.150655511G>A , CM000669.1:g.150655511G>A	GRCh37
NC_000007.12:g.150286444G>A	NCBI36
NG_008916.1:g.24504C>T , LRG_288:g.24504C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1385C>T
ENST00000262186.10:c.552C>T MANE Select	ENSP00000262186.5:p.Gly184=
ENST00000262186.9:c.552C>T	ENSP00000262186.5:p.Gly184=
ENST00000430723.4:c.235-31C>T	ENSP00000387657.4:n.235-31C>T
ENST00000532957.5:n.775C>T
NM_000238.3:c.552C>T , LRG_288t1:c.552C>T	NP_000229.1:p.Gly184=
NM_172056.2:c.552C>T , LRG_288t2:c.552C>T	NP_742053.1:p.Gly184=
XM_011516185.1:c.252C>T	XP_011514487.1:p.Gly84=
XM_011516186.1:c.552C>T	XP_011514488.1:p.Gly184=
XM_011516185.2:c.252C>T	XP_011514487.1:p.Gly84=
XM_011516186.3:c.552C>T	XP_011514488.1:p.Gly184=
XM_017012195.1:c.402C>T	XP_016867684.1:p.Gly134=
XM_017012196.1:c.375C>T	XP_016867685.1:p.Gly125=
NM_000238.4:c.552C>T MANE Select	NP_000229.1:p.Gly184=