Canonical Allele Identifier: CA004300

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67168
• ClinVar RCV Id: RCV000057875
• dbSNP Id: rs199472892
• MyVariant Identifiers: chr7:g.150649841C>G (hg19) ; chr7:g.150952753C>G (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.527G>C
ENST00000684116.1:n.122G>C
ENST00000684241.1:n.2062G>C
ENST00000262186.10:c.1229G>C MANE Select	ENSP00000262186.5:p.Trp410Ser
ENST00000330883.9:c.209G>C	ENSP00000328531.4:p.Trp70Ser
ENST00000262186.9:c.1229G>C	ENSP00000262186.5:p.Trp410Ser
ENST00000330883.8:c.209G>C	ENSP00000328531.4:p.Trp70Ser
ENST00000430723.4:c.881G>C	ENSP00000387657.4:p.Trp294Ser
ENST00000461280.1:n.516G>C
ENST00000473610.5:n.534G>C
ENST00000532957.5:n.1452G>C
NM_000238.3:c.1229G>C , LRG_288t1:c.1229G>C	NP_000229.1:p.Trp410Ser
NM_001204798.1:c.209G>C	NP_001191727.1:p.Trp70Ser
NM_172056.2:c.1229G>C , LRG_288t2:c.1229G>C	NP_742053.1:p.Trp410Ser
NM_172057.2:c.209G>C , LRG_288t3:c.209G>C	NP_742054.1:p.Trp70Ser
XM_011516185.1:c.929G>C	XP_011514487.1:p.Trp310Ser
XM_011516186.1:c.1229G>C	XP_011514488.1:p.Trp410Ser
XM_011516185.2:c.929G>C	XP_011514487.1:p.Trp310Ser
XM_011516186.3:c.1229G>C	XP_011514488.1:p.Trp410Ser
XM_017012195.1:c.1079G>C	XP_016867684.1:p.Trp360Ser
XM_017012196.1:c.1052G>C	XP_016867685.1:p.Trp351Ser
NM_000238.4:c.1229G>C MANE Select	NP_000229.1:p.Trp410Ser
NM_001204798.2:c.209G>C	NP_001191727.1:p.Trp70Ser
NM_172057.3:c.209G>C	NP_742054.1:p.Trp70Ser