Canonical Allele Identifier: CA369859377

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 439845
• ClinVar RCV Id: RCV000506480 ; RCV003532150 ; RCV002470890 ; RCV003343878
• dbSNP Id: rs886039043
• MyVariant Identifiers: chr7:g.150649512C>G (hg19) ; chr7:g.150952424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952424C>G , CM000669.2:g.150952424C>G	GRCh38
NC_000007.13:g.150649512C>G , CM000669.1:g.150649512C>G	GRCh37
NC_000007.12:g.150280445C>G	NCBI36
NG_008916.1:g.30503G>C , LRG_288:g.30503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.855+1G>C
ENST00000684116.1:n.450+1G>C
ENST00000684241.1:n.2390+1G>C
ENST00000262186.10:c.1557+1G>C MANE Select	ENSP00000262186.5:n.1557+1G>C
ENST00000330883.9:c.537+1G>C	ENSP00000328531.4:n.537+1G>C
ENST00000262186.9:c.1557+1G>C	ENSP00000262186.5:n.1557+1G>C
ENST00000330883.8:c.537+1G>C	ENSP00000328531.4:n.537+1G>C
ENST00000430723.4:c.1209+1G>C	ENSP00000387657.4:n.1209+1G>C
ENST00000461280.1:n.844+1G>C
ENST00000473610.5:n.862+1G>C
ENST00000532957.5:n.1780+1G>C
NM_000238.3:c.1557+1G>C , LRG_288t1:c.1557+1G>C	NP_000229.1:n.1557+1G>C
NM_001204798.1:c.537+1G>C	NP_001191727.1:n.537+1G>C
NM_172056.2:c.1557+1G>C , LRG_288t2:c.1557+1G>C	NP_742053.1:n.1557+1G>C
NM_172057.2:c.537+1G>C , LRG_288t3:c.537+1G>C	NP_742054.1:n.537+1G>C
XM_011516185.1:c.1257+1G>C	XP_011514487.1:n.1257+1G>C
XM_011516186.1:c.1557+1G>C	XP_011514488.1:n.1557+1G>C
XM_011516185.2:c.1257+1G>C	XP_011514487.1:n.1257+1G>C
XM_011516186.3:c.1557+1G>C	XP_011514488.1:n.1557+1G>C
XM_017012195.1:c.1407+1G>C	XP_016867684.1:n.1407+1G>C
XM_017012196.1:c.1380+1G>C	XP_016867685.1:n.1380+1G>C
NM_000238.4:c.1557+1G>C MANE Select	NP_000229.1:n.1557+1G>C
NM_001204798.2:c.537+1G>C	NP_001191727.1:n.537+1G>C
NM_172057.3:c.537+1G>C	NP_742054.1:n.537+1G>C