Canonical Allele Identifier: CA037229
Gene: KCNH2 HGNC NCBI
COSMIC:
COSN19698258 (not active)
MyVariant.info:
GRCh38 chr7:g.150947306C>T
GRCh37 chr7:g.150644394C>T
gnomAD v2:
7:150644394 C / T
gnomAD v3:
7:150947306 C / T
gnomAD v4:
chr7-150947306-C-T
Joint Max Group AF 0.74060918 (EAS)
Genomes Max Group AF 0.68654002 (EAS)
Exomes Max Group AF 0.74609916 (EAS)
dbSNP:
3815459
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947306C>T , CM000669.2:g.150947306C>T GRCh38
NC_000007.13:g.150644394C>T , CM000669.1:g.150644394C>T GRCh37
NC_000007.12:g.150275327C>T NCBI36
NG_008916.1:g.35621G>A , LRG_288:g.35621G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3985+22G>A
ENST00000262186.10:c.3152+22G>A MANE Select ENSP00000262186.5:n.3152+22G>A
ENST00000330883.9:c.2132+22G>A ENSP00000328531.4:n.2132+22G>A
ENST00000262186.9:c.3152+22G>A ENSP00000262186.5:n.3152+22G>A
ENST00000330883.8:c.2132+22G>A ENSP00000328531.4:n.2132+22G>A
NM_000238.3:c.3152+22G>A , LRG_288t1:c.3152+22G>A NP_000229.1:n.3152+22G>A
NM_172057.2:c.2132+22G>A , LRG_288t3:c.2132+22G>A NP_742054.1:n.2132+22G>A
XM_011516185.1:c.2852+22G>A XP_011514487.1:n.2852+22G>A
XM_011516185.2:c.2852+22G>A XP_011514487.1:n.2852+22G>A
XM_017012195.1:c.3002+22G>A XP_016867684.1:n.3002+22G>A
XM_017012196.1:c.2975+22G>A XP_016867685.1:n.2975+22G>A
NM_000238.4:c.3152+22G>A MANE Select NP_000229.1:n.3152+22G>A
NM_172057.3:c.2132+22G>A NP_742054.1:n.2132+22G>A
Search 100 bp 5'
Search 100 bp 3'