Canonical Allele Identifier: CA032238

Gene: KCNH2

Linked Data

• dbSNP Id: rs777255411
• ExAC: 7:150647023 G / T
• gnomAD v2: 7-150647023-G-T
• MyVariant Identifiers: chr7:g.150647023G>T (hg19) ; chr7:g.150949935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949935G>T , CM000669.2:g.150949935G>T	GRCh38
NC_000007.13:g.150647023G>T , CM000669.1:g.150647023G>T	GRCh37
NC_000007.12:g.150277956G>T	NCBI36
NG_008916.1:g.32992C>A , LRG_288:g.32992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1929C>A
ENST00000684241.1:n.3231+233C>A
ENST00000262186.10:c.2398+233C>A MANE Select	ENSP00000262186.5:n.2398+233C>A
ENST00000330883.9:c.1378+233C>A	ENSP00000328531.4:n.1378+233C>A
ENST00000262186.9:c.2398+233C>A	ENSP00000262186.5:n.2398+233C>A
ENST00000330883.8:c.1378+233C>A	ENSP00000328531.4:n.1378+233C>A
ENST00000430723.4:c.2283C>A	ENSP00000387657.4:p.Ile761=
ENST00000461280.1:n.1918C>A
ENST00000473610.5:n.2263C>A
ENST00000532957.5:n.2854C>A
NM_000238.3:c.2398+233C>A , LRG_288t1:c.2398+233C>A	NP_000229.1:n.2398+233C>A
NM_001204798.1:c.1611C>A	NP_001191727.1:p.Ile537=
NM_172056.2:c.2631C>A , LRG_288t2:c.2631C>A	NP_742053.1:p.Ile877=
NM_172057.2:c.1378+233C>A , LRG_288t3:c.1378+233C>A	NP_742054.1:n.1378+233C>A
XM_011516185.1:c.2098+233C>A	XP_011514487.1:n.2098+233C>A
XM_011516186.1:c.2398+233C>A	XP_011514488.1:n.2398+233C>A
XM_011516185.2:c.2098+233C>A	XP_011514487.1:n.2098+233C>A
XM_011516186.3:c.2398+233C>A	XP_011514488.1:n.2398+233C>A
XM_017012195.1:c.2248+233C>A	XP_016867684.1:n.2248+233C>A
XM_017012196.1:c.2221+233C>A	XP_016867685.1:n.2221+233C>A
NM_000238.4:c.2398+233C>A MANE Select	NP_000229.1:n.2398+233C>A
NM_001204798.2:c.1611C>A	NP_001191727.1:p.Ile537=
NM_172057.3:c.1378+233C>A	NP_742054.1:n.1378+233C>A