Canonical Allele Identifier: CA027297

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 933401
• ClinVar RCV Id: RCV001201606 ; RCV002497688
• dbSNP Id: rs769814960
• ExAC: 7:150649892 G / A
• gnomAD v2: 7-150649892-G-A
• gnomAD v4: 7-150952804-G-A
• MyVariant Identifiers: chr7:g.150649892G>A (hg19) ; chr7:g.150952804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952804G>A , CM000669.2:g.150952804G>A	GRCh38
NC_000007.13:g.150649892G>A , CM000669.1:g.150649892G>A	GRCh37
NC_000007.12:g.150280825G>A	NCBI36
NG_008916.1:g.30123C>T , LRG_288:g.30123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.476C>T
ENST00000684116.1:n.71C>T
ENST00000684241.1:n.2011C>T
ENST00000262186.10:c.1178C>T MANE Select	ENSP00000262186.5:p.Pro393Leu
ENST00000330883.9:c.158C>T	ENSP00000328531.4:p.Pro53Leu
ENST00000262186.9:c.1178C>T	ENSP00000262186.5:p.Pro393Leu
ENST00000330883.8:c.158C>T	ENSP00000328531.4:p.Pro53Leu
ENST00000430723.4:c.830C>T	ENSP00000387657.4:p.Pro277Leu
ENST00000461280.1:n.465C>T
ENST00000473610.5:n.483C>T
ENST00000532957.5:n.1401C>T
NM_000238.3:c.1178C>T , LRG_288t1:c.1178C>T	NP_000229.1:p.Pro393Leu
NM_001204798.1:c.158C>T	NP_001191727.1:p.Pro53Leu
NM_172056.2:c.1178C>T , LRG_288t2:c.1178C>T	NP_742053.1:p.Pro393Leu
NM_172057.2:c.158C>T , LRG_288t3:c.158C>T	NP_742054.1:p.Pro53Leu
XM_011516185.1:c.878C>T	XP_011514487.1:p.Pro293Leu
XM_011516186.1:c.1178C>T	XP_011514488.1:p.Pro393Leu
XM_011516185.2:c.878C>T	XP_011514487.1:p.Pro293Leu
XM_011516186.3:c.1178C>T	XP_011514488.1:p.Pro393Leu
XM_017012195.1:c.1028C>T	XP_016867684.1:p.Pro343Leu
XM_017012196.1:c.1001C>T	XP_016867685.1:p.Pro334Leu
NM_000238.4:c.1178C>T MANE Select	NP_000229.1:p.Pro393Leu
NM_001204798.2:c.158C>T	NP_001191727.1:p.Pro53Leu
NM_172057.3:c.158C>T	NP_742054.1:p.Pro53Leu