Canonical Allele Identifier: CA006978
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67415
ClinVar RCV Id: RCV000058139
dbSNP Id: rs199473007
MyVariant Identifiers: chr7:g.150645955T>G (hg19) chr7:g.150948867T>G (hg38)
PubMed: PMID:16414944 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948867T>G , CM000669.2:g.150948867T>G GRCh38
NC_000007.13:g.150645955T>G , CM000669.1:g.150645955T>G GRCh37
NC_000007.12:g.150276888T>G NCBI36
NG_008916.1:g.34060A>C , LRG_288:g.34060A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3414A>C
ENST00000262186.10:c.2581A>C MANE Select ENSP00000262186.5:p.Asn861His
ENST00000330883.9:c.1561A>C ENSP00000328531.4:p.Asn521His
ENST00000262186.9:c.2581A>C ENSP00000262186.5:p.Asn861His
ENST00000330883.8:c.1561A>C ENSP00000328531.4:p.Asn521His
NM_000238.3:c.2581A>C , LRG_288t1:c.2581A>C NP_000229.1:p.Asn861His
NM_172057.2:c.1561A>C , LRG_288t3:c.1561A>C NP_742054.1:p.Asn521His
XM_011516185.1:c.2281A>C XP_011514487.1:p.Asn761His
XM_011516186.1:c.2581A>C XP_011514488.1:p.Asn861His
XM_011516185.2:c.2281A>C XP_011514487.1:p.Asn761His
XM_011516186.3:c.2581A>C XP_011514488.1:p.Asn861His
XM_017012195.1:c.2431A>C XP_016867684.1:p.Asn811His
XM_017012196.1:c.2404A>C XP_016867685.1:p.Asn802His
NM_000238.4:c.2581A>C MANE Select NP_000229.1:p.Asn861His
NM_172057.3:c.1561A>C NP_742054.1:p.Asn521His
Search 100 bp 5'
Search 100 bp 3'