Canonical Allele Identifier: CA1108710160
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs77536147
gnomAD v3: 7-150977366-A-T
gnomAD v4: 7-150977366-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977366A>T , CM000669.2:g.150977366A>T GRCh38
NC_000007.13:g.150674454A>T , CM000669.1:g.150674454A>T GRCh37
NC_000007.12:g.150305387A>T NCBI36
NG_008916.1:g.5561T>A , LRG_288:g.5561T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+472T>A MANE Select ENSP00000262186.5:n.76+472T>A
ENST00000262186.9:c.76+472T>A ENSP00000262186.5:n.76+472T>A
ENST00000430723.4:c.-102+472T>A ENSP00000387657.4:n.-102+472T>A
ENST00000532957.5:n.299+472T>A
NM_000238.3:c.76+472T>A , LRG_288t1:c.76+472T>A NP_000229.1:n.76+472T>A
NM_172056.2:c.76+472T>A , LRG_288t2:c.76+472T>A NP_742053.1:n.76+472T>A
XM_011516186.1:c.76+472T>A XP_011514488.1:n.76+472T>A
XM_011516186.3:c.76+472T>A XP_011514488.1:n.76+472T>A
NM_000238.4:c.76+472T>A MANE Select NP_000229.1:n.76+472T>A
Search 100 bp 5'
Search 100 bp 3'