Canonical Allele Identifier: CA006419
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67382
ClinVar RCV Id: RCV000058103
dbSNP Id: rs199472992
MyVariant Identifiers: chr7:g.150647383C>G (hg19) chr7:g.150950295C>G (hg38)
PubMed: PMID:19716085 PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950295C>G , CM000669.2:g.150950295C>G GRCh38
NC_000007.13:g.150647383C>G , CM000669.1:g.150647383C>G GRCh37
NC_000007.12:g.150278316C>G NCBI36
NG_008916.1:g.32632G>C , LRG_288:g.32632G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1569G>C
ENST00000684241.1:n.3104G>C
ENST00000262186.10:c.2271G>C MANE Select ENSP00000262186.5:p.Lys757Asn
ENST00000330883.9:c.1251G>C ENSP00000328531.4:p.Lys417Asn
ENST00000262186.9:c.2271G>C ENSP00000262186.5:p.Lys757Asn
ENST00000330883.8:c.1251G>C ENSP00000328531.4:p.Lys417Asn
ENST00000430723.4:c.1923G>C ENSP00000387657.4:p.Lys641Asn
ENST00000461280.1:n.1558G>C
ENST00000473610.5:n.1903G>C
ENST00000532957.5:n.2494G>C
NM_000238.3:c.2271G>C , LRG_288t1:c.2271G>C NP_000229.1:p.Lys757Asn
NM_001204798.1:c.1251G>C NP_001191727.1:p.Lys417Asn
NM_172056.2:c.2271G>C , LRG_288t2:c.2271G>C NP_742053.1:p.Lys757Asn
NM_172057.2:c.1251G>C , LRG_288t3:c.1251G>C NP_742054.1:p.Lys417Asn
XM_011516185.1:c.1971G>C XP_011514487.1:p.Lys657Asn
XM_011516186.1:c.2271G>C XP_011514488.1:p.Lys757Asn
XM_011516185.2:c.1971G>C XP_011514487.1:p.Lys657Asn
XM_011516186.3:c.2271G>C XP_011514488.1:p.Lys757Asn
XM_017012195.1:c.2121G>C XP_016867684.1:p.Lys707Asn
XM_017012196.1:c.2094G>C XP_016867685.1:p.Lys698Asn
NM_000238.4:c.2271G>C MANE Select NP_000229.1:p.Lys757Asn
NM_001204798.2:c.1251G>C NP_001191727.1:p.Lys417Asn
NM_172057.3:c.1251G>C NP_742054.1:p.Lys417Asn
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