Canonical Allele Identifier: CA008314
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150959701C>T
GRCh37 chr7:g.150656789C>T
Revel Score:
ENST00000392968 0.867
ENST00000262186 (MANE Select) 0.867
ENST00000430723 0.867
gnomAD v2:
7:150656789 C / T
gnomAD v3:
7:150959701 C / T
gnomAD v4:
chr7-150959701-C-T
Joint Max Group AF 0.00002254 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959701C>T , CM000669.2:g.150959701C>T GRCh38
NC_000007.13:g.150656789C>T , CM000669.1:g.150656789C>T GRCh37
NC_000007.12:g.150287722C>T NCBI36
NG_008916.1:g.23226G>A , LRG_288:g.23226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1176G>A
ENST00000262186.10:c.343G>A MANE Select ENSP00000262186.5:p.Val115Met
ENST00000262186.9:c.343G>A ENSP00000262186.5:p.Val115Met
ENST00000430723.4:c.166G>A ENSP00000387657.4:p.Val56Met
ENST00000532957.5:n.566G>A
NM_000238.3:c.343G>A , LRG_288t1:c.343G>A NP_000229.1:p.Val115Met
NM_172056.2:c.343G>A , LRG_288t2:c.343G>A NP_742053.1:p.Val115Met
XM_011516185.1:c.43G>A XP_011514487.1:p.Val15Met
XM_011516186.1:c.343G>A XP_011514488.1:p.Val115Met
XM_011516185.2:c.43G>A XP_011514487.1:p.Val15Met
XM_011516186.3:c.343G>A XP_011514488.1:p.Val115Met
XM_017012195.1:c.193G>A XP_016867684.1:p.Val65Met
XM_017012196.1:c.166G>A XP_016867685.1:p.Val56Met
NM_000238.4:c.343G>A MANE Select NP_000229.1:p.Val115Met
Search 100 bp 5'
Search 100 bp 3'