Canonical Allele Identifier: CA032217

Gene: KCNH2

Linked Data

• dbSNP Id: rs770285641
• ExAC: 7:150647058 G / A
• gnomAD v2: 7-150647058-G-A
• MyVariant Identifiers: chr7:g.150647058G>A (hg19) ; chr7:g.150949970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949970G>A , CM000669.2:g.150949970G>A	GRCh38
NC_000007.13:g.150647058G>A , CM000669.1:g.150647058G>A	GRCh37
NC_000007.12:g.150277991G>A	NCBI36
NG_008916.1:g.32957C>T , LRG_288:g.32957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1894C>T
ENST00000684241.1:n.3231+198C>T
ENST00000262186.10:c.2398+198C>T MANE Select	ENSP00000262186.5:n.2398+198C>T
ENST00000330883.9:c.1378+198C>T	ENSP00000328531.4:n.1378+198C>T
ENST00000262186.9:c.2398+198C>T	ENSP00000262186.5:n.2398+198C>T
ENST00000330883.8:c.1378+198C>T	ENSP00000328531.4:n.1378+198C>T
ENST00000430723.4:c.2248C>T	ENSP00000387657.4:p.Leu750Phe
ENST00000461280.1:n.1883C>T
ENST00000473610.5:n.2228C>T
ENST00000532957.5:n.2819C>T
NM_000238.3:c.2398+198C>T , LRG_288t1:c.2398+198C>T	NP_000229.1:n.2398+198C>T
NM_001204798.1:c.1576C>T	NP_001191727.1:p.Leu526Phe
NM_172056.2:c.2596C>T , LRG_288t2:c.2596C>T	NP_742053.1:p.Leu866Phe
NM_172057.2:c.1378+198C>T , LRG_288t3:c.1378+198C>T	NP_742054.1:n.1378+198C>T
XM_011516185.1:c.2098+198C>T	XP_011514487.1:n.2098+198C>T
XM_011516186.1:c.2398+198C>T	XP_011514488.1:n.2398+198C>T
XM_011516185.2:c.2098+198C>T	XP_011514487.1:n.2098+198C>T
XM_011516186.3:c.2398+198C>T	XP_011514488.1:n.2398+198C>T
XM_017012195.1:c.2248+198C>T	XP_016867684.1:n.2248+198C>T
XM_017012196.1:c.2221+198C>T	XP_016867685.1:n.2221+198C>T
NM_000238.4:c.2398+198C>T MANE Select	NP_000229.1:n.2398+198C>T
NM_001204798.2:c.1576C>T	NP_001191727.1:p.Leu526Phe
NM_172057.3:c.1378+198C>T	NP_742054.1:n.1378+198C>T