Canonical Allele Identifier: CA369860169

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 972695
• ClinVar RCV Id: RCV001248798
• dbSNP Id: rs199472892
• MyVariant Identifiers: chr7:g.150649841C>T (hg19) ; chr7:g.150952753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952753C>T , CM000669.2:g.150952753C>T	GRCh38
NC_000007.13:g.150649841C>T , CM000669.1:g.150649841C>T	GRCh37
NC_000007.12:g.150280774C>T	NCBI36
NG_008916.1:g.30174G>A , LRG_288:g.30174G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.527G>A
ENST00000684116.1:n.122G>A
ENST00000684241.1:n.2062G>A
ENST00000262186.10:c.1229G>A MANE Select	ENSP00000262186.5:p.Trp410Ter
ENST00000330883.9:c.209G>A	ENSP00000328531.4:p.Trp70Ter
ENST00000262186.9:c.1229G>A	ENSP00000262186.5:p.Trp410Ter
ENST00000330883.8:c.209G>A	ENSP00000328531.4:p.Trp70Ter
ENST00000430723.4:c.881G>A	ENSP00000387657.4:p.Trp294Ter
ENST00000461280.1:n.516G>A
ENST00000473610.5:n.534G>A
ENST00000532957.5:n.1452G>A
NM_000238.3:c.1229G>A , LRG_288t1:c.1229G>A	NP_000229.1:p.Trp410Ter
NM_001204798.1:c.209G>A	NP_001191727.1:p.Trp70Ter
NM_172056.2:c.1229G>A , LRG_288t2:c.1229G>A	NP_742053.1:p.Trp410Ter
NM_172057.2:c.209G>A , LRG_288t3:c.209G>A	NP_742054.1:p.Trp70Ter
XM_011516185.1:c.929G>A	XP_011514487.1:p.Trp310Ter
XM_011516186.1:c.1229G>A	XP_011514488.1:p.Trp410Ter
XM_011516185.2:c.929G>A	XP_011514487.1:p.Trp310Ter
XM_011516186.3:c.1229G>A	XP_011514488.1:p.Trp410Ter
XM_017012195.1:c.1079G>A	XP_016867684.1:p.Trp360Ter
XM_017012196.1:c.1052G>A	XP_016867685.1:p.Trp351Ter
NM_000238.4:c.1229G>A MANE Select	NP_000229.1:p.Trp410Ter
NM_001204798.2:c.209G>A	NP_001191727.1:p.Trp70Ter
NM_172057.3:c.209G>A	NP_742054.1:p.Trp70Ter