Canonical Allele Identifier: CA005167
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67241
ClinVar RCV Id: RCV000057952 RCV000456591
dbSNP Id: rs199473519
gnomAD v4: 7-150951693-A-G
MyVariant Identifiers: chr7:g.150648781A>G (hg19) chr7:g.150951693A>G (hg38)
PubMed: PMID:19862833 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951693A>G , CM000669.2:g.150951693A>G GRCh38
NC_000007.13:g.150648781A>G , CM000669.1:g.150648781A>G GRCh37
NC_000007.12:g.150279714A>G NCBI36
NG_008916.1:g.31234T>C , LRG_288:g.31234T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.998T>C
ENST00000684241.1:n.2533T>C
ENST00000262186.10:c.1700T>C MANE Select ENSP00000262186.5:p.Ile567Thr
ENST00000330883.9:c.680T>C ENSP00000328531.4:p.Ile227Thr
ENST00000262186.9:c.1700T>C ENSP00000262186.5:p.Ile567Thr
ENST00000330883.8:c.680T>C ENSP00000328531.4:p.Ile227Thr
ENST00000430723.4:c.1352T>C ENSP00000387657.4:p.Ile451Thr
ENST00000461280.1:n.987T>C
ENST00000473610.5:n.1005T>C
ENST00000532957.5:n.1923T>C
NM_000238.3:c.1700T>C , LRG_288t1:c.1700T>C NP_000229.1:p.Ile567Thr
NM_001204798.1:c.680T>C NP_001191727.1:p.Ile227Thr
NM_172056.2:c.1700T>C , LRG_288t2:c.1700T>C NP_742053.1:p.Ile567Thr
NM_172057.2:c.680T>C , LRG_288t3:c.680T>C NP_742054.1:p.Ile227Thr
XM_011516185.1:c.1400T>C XP_011514487.1:p.Ile467Thr
XM_011516186.1:c.1700T>C XP_011514488.1:p.Ile567Thr
XM_011516185.2:c.1400T>C XP_011514487.1:p.Ile467Thr
XM_011516186.3:c.1700T>C XP_011514488.1:p.Ile567Thr
XM_017012195.1:c.1550T>C XP_016867684.1:p.Ile517Thr
XM_017012196.1:c.1523T>C XP_016867685.1:p.Ile508Thr
NM_000238.4:c.1700T>C MANE Select NP_000229.1:p.Ile567Thr
NM_001204798.2:c.680T>C NP_001191727.1:p.Ile227Thr
NM_172057.3:c.680T>C NP_742054.1:p.Ile227Thr
Search 100 bp 5'
Search 100 bp 3'