Canonical Allele Identifier: CA007016
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67417
ClinVar RCV Id: RCV000058142 RCV001236852
dbSNP Id: rs199473008
gnomAD v4: 7-150948857-T-C
MyVariant Identifiers: chr7:g.150645945T>C (hg19) chr7:g.150948857T>C (hg38)
PubMed: PMID:20541041 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948857T>C , CM000669.2:g.150948857T>C GRCh38
NC_000007.13:g.150645945T>C , CM000669.1:g.150645945T>C GRCh37
NC_000007.12:g.150276878T>C NCBI36
NG_008916.1:g.34070A>G , LRG_288:g.34070A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3424A>G
ENST00000262186.10:c.2591A>G MANE Select ENSP00000262186.5:p.Asp864Gly
ENST00000330883.9:c.1571A>G ENSP00000328531.4:p.Asp524Gly
ENST00000262186.9:c.2591A>G ENSP00000262186.5:p.Asp864Gly
ENST00000330883.8:c.1571A>G ENSP00000328531.4:p.Asp524Gly
NM_000238.3:c.2591A>G , LRG_288t1:c.2591A>G NP_000229.1:p.Asp864Gly
NM_172057.2:c.1571A>G , LRG_288t3:c.1571A>G NP_742054.1:p.Asp524Gly
XM_011516185.1:c.2291A>G XP_011514487.1:p.Asp764Gly
XM_011516186.1:c.2591A>G XP_011514488.1:p.Asp864Gly
XM_011516185.2:c.2291A>G XP_011514487.1:p.Asp764Gly
XM_011516186.3:c.2591A>G XP_011514488.1:p.Asp864Gly
XM_017012195.1:c.2441A>G XP_016867684.1:p.Asp814Gly
XM_017012196.1:c.2414A>G XP_016867685.1:p.Asp805Gly
NM_000238.4:c.2591A>G MANE Select NP_000229.1:p.Asp864Gly
NM_172057.3:c.1571A>G NP_742054.1:p.Asp524Gly
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