Canonical Allele Identifier: CA369866727
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1525692
ClinVar RCV Id: RCV002050417
dbSNP Id: rs1412463792
gnomAD v2: 7-150674968-T-C
gnomAD v3: 7-150977880-T-C
gnomAD v4: 7-150977880-T-C
MyVariant Identifiers: chr7:g.150674968T>C (hg19) chr7:g.150977880T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977880T>C , CM000669.2:g.150977880T>C GRCh38
NC_000007.13:g.150674968T>C , CM000669.1:g.150674968T>C GRCh37
NC_000007.12:g.150305901T>C NCBI36
NG_008916.1:g.5047A>G , LRG_288:g.5047A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.34A>G MANE Select ENSP00000262186.5:p.Asn12Asp
ENST00000262186.9:c.34A>G ENSP00000262186.5:p.Asn12Asp
ENST00000430723.4:c.-144A>G ENSP00000387657.4:n.-144A>G
ENST00000532957.5:n.257A>G
NM_000238.3:c.34A>G , LRG_288t1:c.34A>G NP_000229.1:p.Asn12Asp
NM_172056.2:c.34A>G , LRG_288t2:c.34A>G NP_742053.1:p.Asn12Asp
XM_011516186.1:c.34A>G XP_011514488.1:p.Asn12Asp
XM_011516186.3:c.34A>G XP_011514488.1:p.Asn12Asp
NM_000238.4:c.34A>G MANE Select NP_000229.1:p.Asn12Asp
Search 100 bp 5'
Search 100 bp 3'