Canonical Allele Identifier: CA039396
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150959613T>A
GRCh37 chr7:g.150656701T>A
Revel Score:
ENST00000392968 0.464
ENST00000262186 (MANE Select) 0.464
ENST00000430723 0.464
gnomAD v2:
7:150656701 T / A
gnomAD v3:
7:150959613 T / A
gnomAD v4:
chr7-150959613-T-A
Joint Max Group AF 0.00020982 (AFR)
Genomes Max Group AF 0.00020421 (AFR)
Exomes Max Group AF 0.00013982 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959613T>A , CM000669.2:g.150959613T>A GRCh38
NC_000007.13:g.150656701T>A , CM000669.1:g.150656701T>A GRCh37
NC_000007.12:g.150287634T>A NCBI36
NG_008916.1:g.23314A>T , LRG_288:g.23314A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1264A>T
ENST00000262186.10:c.431A>T MANE Select ENSP00000262186.5:p.Asp144Val
ENST00000262186.9:c.431A>T ENSP00000262186.5:p.Asp144Val
ENST00000430723.4:c.234+20A>T ENSP00000387657.4:n.234+20A>T
ENST00000532957.5:n.654A>T
NM_000238.3:c.431A>T , LRG_288t1:c.431A>T NP_000229.1:p.Asp144Val
NM_172056.2:c.431A>T , LRG_288t2:c.431A>T NP_742053.1:p.Asp144Val
XM_011516185.1:c.131A>T XP_011514487.1:p.Asp44Val
XM_011516186.1:c.431A>T XP_011514488.1:p.Asp144Val
XM_011516185.2:c.131A>T XP_011514487.1:p.Asp44Val
XM_011516186.3:c.431A>T XP_011514488.1:p.Asp144Val
XM_017012195.1:c.281A>T XP_016867684.1:p.Asp94Val
XM_017012196.1:c.254A>T XP_016867685.1:p.Asp85Val
NM_000238.4:c.431A>T MANE Select NP_000229.1:p.Asp144Val
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