Canonical Allele Identifier: CA007169
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150948446T>A
GRCh37 chr7:g.150645534T>A
Revel Score:
ENST00000330883 0.661
ENST00000392968 0.661
ENST00000262186 (MANE Select) 0.661
gnomAD v3:
7:150948446 T / A
gnomAD v4:
chr7-150948446-T-A
Joint Max Group AF 4.2e-7 (NFE)
Exomes Max Group AF 4.5e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948446T>A , CM000669.2:g.150948446T>A GRCh38
NC_000007.13:g.150645534T>A , CM000669.1:g.150645534T>A GRCh37
NC_000007.12:g.150276467T>A NCBI36
NG_008916.1:g.34481A>T , LRG_288:g.34481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3523A>T
ENST00000262186.10:c.2690A>T MANE Select ENSP00000262186.5:p.Lys897Met
ENST00000330883.9:c.1670A>T ENSP00000328531.4:p.Lys557Met
ENST00000262186.9:c.2690A>T ENSP00000262186.5:p.Lys897Met
ENST00000330883.8:c.1670A>T ENSP00000328531.4:p.Lys557Met
NM_000238.3:c.2690A>T , LRG_288t1:c.2690A>T NP_000229.1:p.Lys897Met
NM_172057.2:c.1670A>T , LRG_288t3:c.1670A>T NP_742054.1:p.Lys557Met
XM_011516185.1:c.2390A>T XP_011514487.1:p.Lys797Met
XM_011516186.1:c.2690A>T XP_011514488.1:p.Lys897Met
XM_011516185.2:c.2390A>T XP_011514487.1:p.Lys797Met
XM_011516186.3:c.2690A>T XP_011514488.1:p.Lys897Met
XM_017012195.1:c.2540A>T XP_016867684.1:p.Lys847Met
XM_017012196.1:c.2513A>T XP_016867685.1:p.Lys838Met
NM_000238.4:c.2690A>T MANE Select NP_000229.1:p.Lys897Met
NM_172057.3:c.1670A>T NP_742054.1:p.Lys557Met
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