Canonical Allele Identifier: CA369857883

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1001814
• ClinVar RCV Id: RCV001298158
• dbSNP Id: rs199472960
• MyVariant Identifiers: chr7:g.150648584T>G (hg19) ; chr7:g.150951496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951496T>G , CM000669.2:g.150951496T>G	GRCh38
NC_000007.13:g.150648584T>G , CM000669.1:g.150648584T>G	GRCh37
NC_000007.12:g.150279517T>G	NCBI36
NG_008916.1:g.31431A>C , LRG_288:g.31431A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1195A>C
ENST00000683359.1:n.21A>C
ENST00000684241.1:n.2730A>C
ENST00000262186.10:c.1897A>C MANE Select	ENSP00000262186.5:p.Asn633His
ENST00000330883.9:c.877A>C	ENSP00000328531.4:p.Asn293His
ENST00000262186.9:c.1897A>C	ENSP00000262186.5:p.Asn633His
ENST00000330883.8:c.877A>C	ENSP00000328531.4:p.Asn293His
ENST00000430723.4:c.1549A>C	ENSP00000387657.4:p.Asn517His
ENST00000461280.1:n.1184A>C
ENST00000473610.5:n.1202A>C
ENST00000532957.5:n.2120A>C
NM_000238.3:c.1897A>C , LRG_288t1:c.1897A>C	NP_000229.1:p.Asn633His
NM_001204798.1:c.877A>C	NP_001191727.1:p.Asn293His
NM_172056.2:c.1897A>C , LRG_288t2:c.1897A>C	NP_742053.1:p.Asn633His
NM_172057.2:c.877A>C , LRG_288t3:c.877A>C	NP_742054.1:p.Asn293His
XM_011516185.1:c.1597A>C	XP_011514487.1:p.Asn533His
XM_011516186.1:c.1897A>C	XP_011514488.1:p.Asn633His
XM_011516185.2:c.1597A>C	XP_011514487.1:p.Asn533His
XM_011516186.3:c.1897A>C	XP_011514488.1:p.Asn633His
XM_017012195.1:c.1747A>C	XP_016867684.1:p.Asn583His
XM_017012196.1:c.1720A>C	XP_016867685.1:p.Asn574His
NM_000238.4:c.1897A>C MANE Select	NP_000229.1:p.Asn633His
NM_001204798.2:c.877A>C	NP_001191727.1:p.Asn293His
NM_172057.3:c.877A>C	NP_742054.1:p.Asn293His