Canonical Allele Identifier: CA369852511
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150947340C>T
GRCh37 chr7:g.150644428C>T
Revel Score:
ENST00000330883 0.625
ENST00000392968 0.625
ENST00000262186 (MANE Select) 0.625
gnomAD v2:
7:150644428 C / T
gnomAD v3:
7:150947340 C / T
gnomAD v4:
chr7-150947340-C-T
Joint Max Group AF 0.000026 (AFR)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.00000878 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947340C>T , CM000669.2:g.150947340C>T GRCh38
NC_000007.13:g.150644428C>T , CM000669.1:g.150644428C>T GRCh37
NC_000007.12:g.150275361C>T NCBI36
NG_008916.1:g.35587G>A , LRG_288:g.35587G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3973G>A
ENST00000262186.10:c.3140G>A MANE Select ENSP00000262186.5:p.Arg1047His
ENST00000330883.9:c.2120G>A ENSP00000328531.4:p.Arg707His
ENST00000262186.9:c.3140G>A ENSP00000262186.5:p.Arg1047His
ENST00000330883.8:c.2120G>A ENSP00000328531.4:p.Arg707His
NM_000238.3:c.3140G>A , LRG_288t1:c.3140G>A NP_000229.1:p.Arg1047His
NM_172057.2:c.2120G>A , LRG_288t3:c.2120G>A NP_742054.1:p.Arg707His
XM_011516185.1:c.2840G>A XP_011514487.1:p.Arg947His
XM_011516185.2:c.2840G>A XP_011514487.1:p.Arg947His
XM_017012195.1:c.2990G>A XP_016867684.1:p.Arg997His
XM_017012196.1:c.2963G>A XP_016867685.1:p.Arg988His
NM_000238.4:c.3140G>A MANE Select NP_000229.1:p.Arg1047His
NM_172057.3:c.2120G>A NP_742054.1:p.Arg707His
Search 100 bp 5'
Search 100 bp 3'