Canonical Allele Identifier: CA008385
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67502
ClinVar RCV Id: RCV000058231 RCV000246450 RCV001854208
dbSNP Id: rs199473499
MyVariant Identifiers: chr7:g.150656758A>C (hg19) chr7:g.150959670A>C (hg38)
PubMed: PMID:19371231 PMID:19716085 PMID:22581653 PMID:23555008 PMID:23631430 PMID:25417810
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959670A>C , CM000669.2:g.150959670A>C GRCh38
NC_000007.13:g.150656758A>C , CM000669.1:g.150656758A>C GRCh37
NC_000007.12:g.150287691A>C NCBI36
NG_008916.1:g.23257T>G , LRG_288:g.23257T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1207T>G
ENST00000262186.10:c.374T>G MANE Select ENSP00000262186.5:p.Phe125Cys
ENST00000262186.9:c.374T>G ENSP00000262186.5:p.Phe125Cys
ENST00000430723.4:c.197T>G ENSP00000387657.4:p.Phe66Cys
ENST00000532957.5:n.597T>G
NM_000238.3:c.374T>G , LRG_288t1:c.374T>G NP_000229.1:p.Phe125Cys
NM_172056.2:c.374T>G , LRG_288t2:c.374T>G NP_742053.1:p.Phe125Cys
XM_011516185.1:c.74T>G XP_011514487.1:p.Phe25Cys
XM_011516186.1:c.374T>G XP_011514488.1:p.Phe125Cys
XM_011516185.2:c.74T>G XP_011514487.1:p.Phe25Cys
XM_011516186.3:c.374T>G XP_011514488.1:p.Phe125Cys
XM_017012195.1:c.224T>G XP_016867684.1:p.Phe75Cys
XM_017012196.1:c.197T>G XP_016867685.1:p.Phe66Cys
NM_000238.4:c.374T>G MANE Select NP_000229.1:p.Phe125Cys
Search 100 bp 5'
Search 100 bp 3'