Canonical Allele Identifier: CA007991
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150947368C>T
GRCh37 chr7:g.150644456C>T
Revel Score:
ENST00000330883 0.548
ENST00000392968 0.548
ENST00000262186 (MANE Select) 0.548
gnomAD v2:
7:150644456 C / T
gnomAD v3:
7:150947368 C / T
gnomAD v4:
chr7-150947368-C-T
Joint Max Group AF 0.00032297 (EAS)
Genomes Max Group AF 0.00038401 (EAS)
Exomes Max Group AF 0.00025671 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947368C>T , CM000669.2:g.150947368C>T GRCh38
NC_000007.13:g.150644456C>T , CM000669.1:g.150644456C>T GRCh37
NC_000007.12:g.150275389C>T NCBI36
NG_008916.1:g.35559G>A , LRG_288:g.35559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3945G>A
ENST00000262186.10:c.3112G>A MANE Select ENSP00000262186.5:p.Val1038Met
ENST00000330883.9:c.2092G>A ENSP00000328531.4:p.Val698Met
ENST00000262186.9:c.3112G>A ENSP00000262186.5:p.Val1038Met
ENST00000330883.8:c.2092G>A ENSP00000328531.4:p.Val698Met
NM_000238.3:c.3112G>A , LRG_288t1:c.3112G>A NP_000229.1:p.Val1038Met
NM_172057.2:c.2092G>A , LRG_288t3:c.2092G>A NP_742054.1:p.Val698Met
XM_011516185.1:c.2812G>A XP_011514487.1:p.Val938Met
XM_011516185.2:c.2812G>A XP_011514487.1:p.Val938Met
XM_017012195.1:c.2962G>A XP_016867684.1:p.Val988Met
XM_017012196.1:c.2935G>A XP_016867685.1:p.Val979Met
NM_000238.4:c.3112G>A MANE Select NP_000229.1:p.Val1038Met
NM_172057.3:c.2092G>A NP_742054.1:p.Val698Met
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