Canonical Allele Identifier: CA004196
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150957352C>T
GRCh37 chr7:g.150654440C>T
Revel Score:
ENST00000392968 0.531
ENST00000262186 (MANE Select) 0.531
ENST00000430723 0.531
gnomAD v2:
7:150654440 C / T
gnomAD v3:
7:150957352 C / T
gnomAD v4:
chr7-150957352-C-T
Joint Max Group AF 0.00007247 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00007458 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957352C>T , CM000669.2:g.150957352C>T GRCh38
NC_000007.13:g.150654440C>T , CM000669.1:g.150654440C>T GRCh37
NC_000007.12:g.150285373C>T NCBI36
NG_008916.1:g.25575G>A , LRG_288:g.25575G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1900G>A
ENST00000262186.10:c.1067G>A MANE Select ENSP00000262186.5:p.Arg356His
ENST00000262186.9:c.1067G>A ENSP00000262186.5:p.Arg356His
ENST00000430723.4:c.719G>A ENSP00000387657.4:p.Arg240His
ENST00000532957.5:n.1290G>A
NM_000238.3:c.1067G>A , LRG_288t1:c.1067G>A NP_000229.1:p.Arg356His
NM_172056.2:c.1067G>A , LRG_288t2:c.1067G>A NP_742053.1:p.Arg356His
XM_011516185.1:c.767G>A XP_011514487.1:p.Arg256His
XM_011516186.1:c.1067G>A XP_011514488.1:p.Arg356His
XM_011516185.2:c.767G>A XP_011514487.1:p.Arg256His
XM_011516186.3:c.1067G>A XP_011514488.1:p.Arg356His
XM_017012195.1:c.917G>A XP_016867684.1:p.Arg306His
XM_017012196.1:c.890G>A XP_016867685.1:p.Arg297His
NM_000238.4:c.1067G>A MANE Select NP_000229.1:p.Arg356His
Search 100 bp 5'
Search 100 bp 3'