Canonical Allele Identifier: CA458645734

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3073188
• ClinVar RCV Id: RCV004015202
• dbSNP Id: rs1563161178
• gnomAD v4: 7-150952770-G-A
• MyVariant Identifiers: chr7:g.150649858G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952770G>A , CM000669.2:g.150952770G>A	GRCh38
NC_000007.13:g.150649858G>A , CM000669.1:g.150649858G>A	GRCh37
NC_000007.12:g.150280791G>A	NCBI36
NG_008916.1:g.30157C>T , LRG_288:g.30157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.510C>T
ENST00000684116.1:n.105C>T
ENST00000684241.1:n.2045C>T
ENST00000262186.10:c.1212C>T MANE Select	ENSP00000262186.5:p.Ser404=
ENST00000330883.9:c.192C>T	ENSP00000328531.4:p.Ser64=
ENST00000262186.9:c.1212C>T	ENSP00000262186.5:p.Ser404=
ENST00000330883.8:c.192C>T	ENSP00000328531.4:p.Ser64=
ENST00000430723.4:c.864C>T	ENSP00000387657.4:p.Ser288=
ENST00000461280.1:n.499C>T
ENST00000473610.5:n.517C>T
ENST00000532957.5:n.1435C>T
NM_000238.3:c.1212C>T , LRG_288t1:c.1212C>T	NP_000229.1:p.Ser404=
NM_001204798.1:c.192C>T	NP_001191727.1:p.Ser64=
NM_172056.2:c.1212C>T , LRG_288t2:c.1212C>T	NP_742053.1:p.Ser404=
NM_172057.2:c.192C>T , LRG_288t3:c.192C>T	NP_742054.1:p.Ser64=
XM_011516185.1:c.912C>T	XP_011514487.1:p.Ser304=
XM_011516186.1:c.1212C>T	XP_011514488.1:p.Ser404=
XM_011516185.2:c.912C>T	XP_011514487.1:p.Ser304=
XM_011516186.3:c.1212C>T	XP_011514488.1:p.Ser404=
XM_017012195.1:c.1062C>T	XP_016867684.1:p.Ser354=
XM_017012196.1:c.1035C>T	XP_016867685.1:p.Ser345=
NM_000238.4:c.1212C>T MANE Select	NP_000229.1:p.Ser404=
NM_001204798.2:c.192C>T	NP_001191727.1:p.Ser64=
NM_172057.3:c.192C>T	NP_742054.1:p.Ser64=