Canonical Allele Identifier: CA369855911

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950133-C-T
• MyVariant Identifiers: chr7:g.150647221C>T (hg19) ; chr7:g.150950133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950133C>T , CM000669.2:g.150950133C>T	GRCh38
NC_000007.13:g.150647221C>T , CM000669.1:g.150647221C>T	GRCh37
NC_000007.12:g.150278154C>T	NCBI36
NG_008916.1:g.32794G>A , LRG_288:g.32794G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1731G>A
ENST00000684241.1:n.3231+35G>A
ENST00000262186.10:c.2398+35G>A MANE Select	ENSP00000262186.5:n.2398+35G>A
ENST00000330883.9:c.1378+35G>A	ENSP00000328531.4:n.1378+35G>A
ENST00000262186.9:c.2398+35G>A	ENSP00000262186.5:n.2398+35G>A
ENST00000330883.8:c.1378+35G>A	ENSP00000328531.4:n.1378+35G>A
ENST00000430723.4:c.2085G>A	ENSP00000387657.4:p.Met695Ile
ENST00000461280.1:n.1720G>A
ENST00000473610.5:n.2065G>A
ENST00000532957.5:n.2656G>A
NM_000238.3:c.2398+35G>A , LRG_288t1:c.2398+35G>A	NP_000229.1:n.2398+35G>A
NM_001204798.1:c.1413G>A	NP_001191727.1:p.Met471Ile
NM_172056.2:c.2433G>A , LRG_288t2:c.2433G>A	NP_742053.1:p.Met811Ile
NM_172057.2:c.1378+35G>A , LRG_288t3:c.1378+35G>A	NP_742054.1:n.1378+35G>A
XM_011516185.1:c.2098+35G>A	XP_011514487.1:n.2098+35G>A
XM_011516186.1:c.2398+35G>A	XP_011514488.1:n.2398+35G>A
XM_011516185.2:c.2098+35G>A	XP_011514487.1:n.2098+35G>A
XM_011516186.3:c.2398+35G>A	XP_011514488.1:n.2398+35G>A
XM_017012195.1:c.2248+35G>A	XP_016867684.1:n.2248+35G>A
XM_017012196.1:c.2221+35G>A	XP_016867685.1:n.2221+35G>A
NM_000238.4:c.2398+35G>A MANE Select	NP_000229.1:n.2398+35G>A
NM_001204798.2:c.1413G>A	NP_001191727.1:p.Met471Ile
NM_172057.3:c.1378+35G>A	NP_742054.1:n.1378+35G>A