Canonical Allele Identifier: CA579075447

Gene: KCNH2

Linked Data

• dbSNP Id: rs1346178145
• gnomAD v2: 7-150647119-T-G
• MyVariant Identifiers: chr7:g.150647119T>G (hg19) ; chr7:g.150950031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950031T>G , CM000669.2:g.150950031T>G	GRCh38
NC_000007.13:g.150647119T>G , CM000669.1:g.150647119T>G	GRCh37
NC_000007.12:g.150278052T>G	NCBI36
NG_008916.1:g.32896A>C , LRG_288:g.32896A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1833A>C
ENST00000684241.1:n.3231+137A>C
ENST00000262186.10:c.2398+137A>C MANE Select	ENSP00000262186.5:n.2398+137A>C
ENST00000330883.9:c.1378+137A>C	ENSP00000328531.4:n.1378+137A>C
ENST00000262186.9:c.2398+137A>C	ENSP00000262186.5:n.2398+137A>C
ENST00000330883.8:c.1378+137A>C	ENSP00000328531.4:n.1378+137A>C
ENST00000430723.4:c.2187A>C	ENSP00000387657.4:p.Leu729=
ENST00000461280.1:n.1822A>C
ENST00000473610.5:n.2167A>C
ENST00000532957.5:n.2758A>C
NM_000238.3:c.2398+137A>C , LRG_288t1:c.2398+137A>C	NP_000229.1:n.2398+137A>C
NM_001204798.1:c.1515A>C	NP_001191727.1:p.Leu505=
NM_172056.2:c.2535A>C , LRG_288t2:c.2535A>C	NP_742053.1:p.Leu845=
NM_172057.2:c.1378+137A>C , LRG_288t3:c.1378+137A>C	NP_742054.1:n.1378+137A>C
XM_011516185.1:c.2098+137A>C	XP_011514487.1:n.2098+137A>C
XM_011516186.1:c.2398+137A>C	XP_011514488.1:n.2398+137A>C
XM_011516185.2:c.2098+137A>C	XP_011514487.1:n.2098+137A>C
XM_011516186.3:c.2398+137A>C	XP_011514488.1:n.2398+137A>C
XM_017012195.1:c.2248+137A>C	XP_016867684.1:n.2248+137A>C
XM_017012196.1:c.2221+137A>C	XP_016867685.1:n.2221+137A>C
NM_000238.4:c.2398+137A>C MANE Select	NP_000229.1:n.2398+137A>C
NM_001204798.2:c.1515A>C	NP_001191727.1:p.Leu505=
NM_172057.3:c.1378+137A>C	NP_742054.1:n.1378+137A>C