Canonical Allele Identifier: CA005301

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200378
• ClinVar RCV Id: RCV000181814 ; RCV002500533
• dbSNP Id: rs794728376
• gnomAD v4: 7-150951660-T-G
• MyVariant Identifiers: chr7:g.150648748T>G (hg19) ; chr7:g.150951660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951660T>G , CM000669.2:g.150951660T>G	GRCh38
NC_000007.13:g.150648748T>G , CM000669.1:g.150648748T>G	GRCh37
NC_000007.12:g.150279681T>G	NCBI36
NG_008916.1:g.31267A>C , LRG_288:g.31267A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1031A>C
ENST00000684241.1:n.2566A>C
ENST00000262186.10:c.1733A>C MANE Select	ENSP00000262186.5:p.His578Pro
ENST00000330883.9:c.713A>C	ENSP00000328531.4:p.His238Pro
ENST00000262186.9:c.1733A>C	ENSP00000262186.5:p.His578Pro
ENST00000330883.8:c.713A>C	ENSP00000328531.4:p.His238Pro
ENST00000430723.4:c.1385A>C	ENSP00000387657.4:p.His462Pro
ENST00000461280.1:n.1020A>C
ENST00000473610.5:n.1038A>C
ENST00000532957.5:n.1956A>C
NM_000238.3:c.1733A>C , LRG_288t1:c.1733A>C	NP_000229.1:p.His578Pro
NM_001204798.1:c.713A>C	NP_001191727.1:p.His238Pro
NM_172056.2:c.1733A>C , LRG_288t2:c.1733A>C	NP_742053.1:p.His578Pro
NM_172057.2:c.713A>C , LRG_288t3:c.713A>C	NP_742054.1:p.His238Pro
XM_011516185.1:c.1433A>C	XP_011514487.1:p.His478Pro
XM_011516186.1:c.1733A>C	XP_011514488.1:p.His578Pro
XM_011516185.2:c.1433A>C	XP_011514487.1:p.His478Pro
XM_011516186.3:c.1733A>C	XP_011514488.1:p.His578Pro
XM_017012195.1:c.1583A>C	XP_016867684.1:p.His528Pro
XM_017012196.1:c.1556A>C	XP_016867685.1:p.His519Pro
NM_000238.4:c.1733A>C MANE Select	NP_000229.1:p.His578Pro
NM_001204798.2:c.713A>C	NP_001191727.1:p.His238Pro
NM_172057.3:c.713A>C	NP_742054.1:p.His238Pro