Canonical Allele Identifier: CA458871703

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1117205
• ClinVar RCV Id: RCV001445866 ; RCV001842035
• dbSNP Id: rs2116971640
• gnomAD v4: 7-150952671-T-C
• MyVariant Identifiers: chr7:g.150649759T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952671T>C , CM000669.2:g.150952671T>C	GRCh38
NC_000007.13:g.150649759T>C , CM000669.1:g.150649759T>C	GRCh37
NC_000007.12:g.150280692T>C	NCBI36
NG_008916.1:g.30256A>G , LRG_288:g.30256A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.609A>G
ENST00000684116.1:n.204A>G
ENST00000684241.1:n.2144A>G
ENST00000262186.10:c.1311A>G MANE Select	ENSP00000262186.5:p.Glu437=
ENST00000330883.9:c.291A>G	ENSP00000328531.4:p.Glu97=
ENST00000262186.9:c.1311A>G	ENSP00000262186.5:p.Glu437=
ENST00000330883.8:c.291A>G	ENSP00000328531.4:p.Glu97=
ENST00000430723.4:c.963A>G	ENSP00000387657.4:p.Glu321=
ENST00000461280.1:n.598A>G
ENST00000473610.5:n.616A>G
ENST00000532957.5:n.1534A>G
NM_000238.3:c.1311A>G , LRG_288t1:c.1311A>G	NP_000229.1:p.Glu437=
NM_001204798.1:c.291A>G	NP_001191727.1:p.Glu97=
NM_172056.2:c.1311A>G , LRG_288t2:c.1311A>G	NP_742053.1:p.Glu437=
NM_172057.2:c.291A>G , LRG_288t3:c.291A>G	NP_742054.1:p.Glu97=
XM_011516185.1:c.1011A>G	XP_011514487.1:p.Glu337=
XM_011516186.1:c.1311A>G	XP_011514488.1:p.Glu437=
XM_011516185.2:c.1011A>G	XP_011514487.1:p.Glu337=
XM_011516186.3:c.1311A>G	XP_011514488.1:p.Glu437=
XM_017012195.1:c.1161A>G	XP_016867684.1:p.Glu387=
XM_017012196.1:c.1134A>G	XP_016867685.1:p.Glu378=
NM_000238.4:c.1311A>G MANE Select	NP_000229.1:p.Glu437=
NM_001204798.2:c.291A>G	NP_001191727.1:p.Glu97=
NM_172057.3:c.291A>G	NP_742054.1:p.Glu97=