Canonical Allele Identifier: CA008907
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150958110C>T
GRCh37 chr7:g.150655198C>T
Revel Score:
ENST00000392968 0.694
ENST00000262186 (MANE Select) 0.694
ENST00000430723 0.694
gnomAD v2:
7:150655198 C / T
gnomAD v3:
7:150958110 C / T
gnomAD v4:
chr7-150958110-C-T
Joint Max Group AF 0.00018627 (NFE)
Genomes Max Group AF 0.00007909 (AFR)
Exomes Max Group AF 0.00019533 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958110C>T , CM000669.2:g.150958110C>T GRCh38
NC_000007.13:g.150655198C>T , CM000669.1:g.150655198C>T GRCh37
NC_000007.12:g.150286131C>T NCBI36
NG_008916.1:g.24817G>A , LRG_288:g.24817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1698G>A
ENST00000262186.10:c.865G>A MANE Select ENSP00000262186.5:p.Glu289Lys
ENST00000262186.9:c.865G>A ENSP00000262186.5:p.Glu289Lys
ENST00000430723.4:c.517G>A ENSP00000387657.4:p.Glu173Lys
ENST00000532957.5:n.1088G>A
NM_000238.3:c.865G>A , LRG_288t1:c.865G>A NP_000229.1:p.Glu289Lys
NM_172056.2:c.865G>A , LRG_288t2:c.865G>A NP_742053.1:p.Glu289Lys
XM_011516185.1:c.565G>A XP_011514487.1:p.Glu189Lys
XM_011516186.1:c.865G>A XP_011514488.1:p.Glu289Lys
XM_011516185.2:c.565G>A XP_011514487.1:p.Glu189Lys
XM_011516186.3:c.865G>A XP_011514488.1:p.Glu289Lys
XM_017012195.1:c.715G>A XP_016867684.1:p.Glu239Lys
XM_017012196.1:c.688G>A XP_016867685.1:p.Glu230Lys
NM_000238.4:c.865G>A MANE Select NP_000229.1:p.Glu289Lys
Search 100 bp 5'
Search 100 bp 3'