Canonical Allele Identifier: CA035595
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150947627C>T
GRCh37 chr7:g.150644715C>T
Revel Score:
ENST00000330883 0.775
ENST00000392968 0.775
ENST00000262186 (MANE Select) 0.775
gnomAD v2:
7:150644715 C / T
gnomAD v3:
7:150947627 C / T
gnomAD v4:
chr7-150947627-C-T
Joint Max Group AF 0.000265 (AFR)
Genomes Max Group AF 0.00018472 (AFR)
Exomes Max Group AF 0.0002758 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947627C>T , CM000669.2:g.150947627C>T GRCh38
NC_000007.13:g.150644715C>T , CM000669.1:g.150644715C>T GRCh37
NC_000007.12:g.150275648C>T NCBI36
NG_008916.1:g.35300G>A , LRG_288:g.35300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3777G>A
ENST00000262186.10:c.2944G>A MANE Select ENSP00000262186.5:p.Asp982Asn
ENST00000330883.9:c.1924G>A ENSP00000328531.4:p.Asp642Asn
ENST00000262186.9:c.2944G>A ENSP00000262186.5:p.Asp982Asn
ENST00000330883.8:c.1924G>A ENSP00000328531.4:p.Asp642Asn
NM_000238.3:c.2944G>A , LRG_288t1:c.2944G>A NP_000229.1:p.Asp982Asn
NM_172057.2:c.1924G>A , LRG_288t3:c.1924G>A NP_742054.1:p.Asp642Asn
XM_011516185.1:c.2644G>A XP_011514487.1:p.Asp882Asn
XM_011516186.1:c.*24G>A XP_011514488.1:n.*24G>A
XM_011516185.2:c.2644G>A XP_011514487.1:p.Asp882Asn
XM_011516186.3:c.*24G>A XP_011514488.1:n.*24G>A
XM_017012195.1:c.2794G>A XP_016867684.1:p.Asp932Asn
XM_017012196.1:c.2767G>A XP_016867685.1:p.Asp923Asn
NM_000238.4:c.2944G>A MANE Select NP_000229.1:p.Asp982Asn
NM_172057.3:c.1924G>A NP_742054.1:p.Asp642Asn
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