Canonical Allele Identifier: CA369856773

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1163877
• ClinVar RCV Id: RCV001509330
• dbSNP Id: rs2116950992
• MyVariant Identifiers: chr7:g.150647509C>T (hg19) ; chr7:g.150950421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950421C>T , CM000669.2:g.150950421C>T	GRCh38
NC_000007.13:g.150647509C>T , CM000669.1:g.150647509C>T	GRCh37
NC_000007.12:g.150278442C>T	NCBI36
NG_008916.1:g.32506G>A , LRG_288:g.32506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1444-1G>A
ENST00000684241.1:n.2979-1G>A
ENST00000262186.10:c.2146-1G>A MANE Select	ENSP00000262186.5:n.2146-1G>A
ENST00000330883.9:c.1126-1G>A	ENSP00000328531.4:n.1126-1G>A
ENST00000262186.9:c.2146-1G>A	ENSP00000262186.5:n.2146-1G>A
ENST00000330883.8:c.1126-1G>A	ENSP00000328531.4:n.1126-1G>A
ENST00000430723.4:c.1798-1G>A	ENSP00000387657.4:n.1798-1G>A
ENST00000461280.1:n.1433-1G>A
ENST00000473610.5:n.1778-1G>A
ENST00000532957.5:n.2369-1G>A
NM_000238.3:c.2146-1G>A , LRG_288t1:c.2146-1G>A	NP_000229.1:n.2146-1G>A
NM_001204798.1:c.1126-1G>A	NP_001191727.1:n.1126-1G>A
NM_172056.2:c.2146-1G>A , LRG_288t2:c.2146-1G>A	NP_742053.1:n.2146-1G>A
NM_172057.2:c.1126-1G>A , LRG_288t3:c.1126-1G>A	NP_742054.1:n.1126-1G>A
XM_011516185.1:c.1846-1G>A	XP_011514487.1:n.1846-1G>A
XM_011516186.1:c.2146-1G>A	XP_011514488.1:n.2146-1G>A
XM_011516185.2:c.1846-1G>A	XP_011514487.1:n.1846-1G>A
XM_011516186.3:c.2146-1G>A	XP_011514488.1:n.2146-1G>A
XM_017012195.1:c.1996-1G>A	XP_016867684.1:n.1996-1G>A
XM_017012196.1:c.1969-1G>A	XP_016867685.1:n.1969-1G>A
NM_000238.4:c.2146-1G>A MANE Select	NP_000229.1:n.2146-1G>A
NM_001204798.2:c.1126-1G>A	NP_001191727.1:n.1126-1G>A
NM_172057.3:c.1126-1G>A	NP_742054.1:n.1126-1G>A