Canonical Allele Identifier: CA16618403
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150948980C>T
GRCh37 chr7:g.150646068C>T
Revel Score:
ENST00000330883 0.935
ENST00000392968 0.935
ENST00000262186 (MANE Select) 0.935
gnomAD v4:
chr7-150948980-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948980C>T , CM000669.2:g.150948980C>T GRCh38
NC_000007.13:g.150646068C>T , CM000669.1:g.150646068C>T GRCh37
NC_000007.12:g.150277001C>T NCBI36
NG_008916.1:g.33947G>A , LRG_288:g.33947G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3301G>A
ENST00000262186.10:c.2468G>A MANE Select ENSP00000262186.5:p.Arg823Gln
ENST00000330883.9:c.1448G>A ENSP00000328531.4:p.Arg483Gln
ENST00000262186.9:c.2468G>A ENSP00000262186.5:p.Arg823Gln
ENST00000330883.8:c.1448G>A ENSP00000328531.4:p.Arg483Gln
NM_000238.3:c.2468G>A , LRG_288t1:c.2468G>A NP_000229.1:p.Arg823Gln
NM_172057.2:c.1448G>A , LRG_288t3:c.1448G>A NP_742054.1:p.Arg483Gln
XM_011516185.1:c.2168G>A XP_011514487.1:p.Arg723Gln
XM_011516186.1:c.2468G>A XP_011514488.1:p.Arg823Gln
XM_011516185.2:c.2168G>A XP_011514487.1:p.Arg723Gln
XM_011516186.3:c.2468G>A XP_011514488.1:p.Arg823Gln
XM_017012195.1:c.2318G>A XP_016867684.1:p.Arg773Gln
XM_017012196.1:c.2291G>A XP_016867685.1:p.Arg764Gln
NM_000238.4:c.2468G>A MANE Select NP_000229.1:p.Arg823Gln
NM_172057.3:c.1448G>A NP_742054.1:p.Arg483Gln
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