Canonical Allele Identifier: CA006132
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67351
ClinVar RCV Id: RCV000058071
dbSNP Id: rs199473416
MyVariant Identifiers: chr7:g.150671910A>C (hg19) chr7:g.150974822A>C (hg38)
PubMed: PMID:10187793 PMID:10973849 PMID:11854117 PMID:21536673 PMID:22396785 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974822A>C , CM000669.2:g.150974822A>C GRCh38
NC_000007.13:g.150671910A>C , CM000669.1:g.150671910A>C GRCh37
NC_000007.12:g.150302843A>C NCBI36
NG_008916.1:g.8105T>G , LRG_288:g.8105T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.196T>G MANE Select ENSP00000262186.5:p.Cys66Gly
ENST00000262186.9:c.196T>G ENSP00000262186.5:p.Cys66Gly
ENST00000430723.4:c.19T>G ENSP00000387657.4:p.Cys7Gly
ENST00000532957.5:n.419T>G
NM_000238.3:c.196T>G , LRG_288t1:c.196T>G NP_000229.1:p.Cys66Gly
NM_172056.2:c.196T>G , LRG_288t2:c.196T>G NP_742053.1:p.Cys66Gly
XM_011516186.1:c.196T>G XP_011514488.1:p.Cys66Gly
XM_011516186.3:c.196T>G XP_011514488.1:p.Cys66Gly
XM_017012196.1:c.19T>G XP_016867685.1:p.Cys7Gly
NM_000238.4:c.196T>G MANE Select NP_000229.1:p.Cys66Gly
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