Canonical Allele Identifier: CA369866588
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331098
ClinVar RCV Id: RCV001802757
dbSNP Id: rs794728419
gnomAD v3: 7-150977836-A-T
gnomAD v4: 7-150977836-A-T
MyVariant Identifiers: chr7:g.150674924A>T (hg19) chr7:g.150977836A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977836A>T , CM000669.2:g.150977836A>T GRCh38
NC_000007.13:g.150674924A>T , CM000669.1:g.150674924A>T GRCh37
NC_000007.12:g.150305857A>T NCBI36
NG_008916.1:g.5091T>A , LRG_288:g.5091T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+2T>A MANE Select ENSP00000262186.5:n.76+2T>A
ENST00000262186.9:c.76+2T>A ENSP00000262186.5:n.76+2T>A
ENST00000430723.4:c.-102+2T>A ENSP00000387657.4:n.-102+2T>A
ENST00000532957.5:n.299+2T>A
NM_000238.3:c.76+2T>A , LRG_288t1:c.76+2T>A NP_000229.1:n.76+2T>A
NM_172056.2:c.76+2T>A , LRG_288t2:c.76+2T>A NP_742053.1:n.76+2T>A
XM_011516186.1:c.76+2T>A XP_011514488.1:n.76+2T>A
XM_011516186.3:c.76+2T>A XP_011514488.1:n.76+2T>A
NM_000238.4:c.76+2T>A MANE Select NP_000229.1:n.76+2T>A
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