Canonical Allele Identifier: CA005948
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67328
ClinVar RCV Id: RCV000058047
dbSNP Id: rs199472965
MyVariant Identifiers: chr7:g.150648576G>C (hg19) chr7:g.150951488G>C (hg38)
PubMed: PMID:19716085 PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951488G>C , CM000669.2:g.150951488G>C GRCh38
NC_000007.13:g.150648576G>C , CM000669.1:g.150648576G>C GRCh37
NC_000007.12:g.150279509G>C NCBI36
NG_008916.1:g.31439C>G , LRG_288:g.31439C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1203C>G
ENST00000683359.1:n.29C>G
ENST00000684241.1:n.2738C>G
ENST00000262186.10:c.1905C>G MANE Select ENSP00000262186.5:p.Asn635Lys
ENST00000330883.9:c.885C>G ENSP00000328531.4:p.Asn295Lys
ENST00000262186.9:c.1905C>G ENSP00000262186.5:p.Asn635Lys
ENST00000330883.8:c.885C>G ENSP00000328531.4:p.Asn295Lys
ENST00000430723.4:c.1557C>G ENSP00000387657.4:p.Asn519Lys
ENST00000461280.1:n.1192C>G
ENST00000473610.5:n.1210C>G
ENST00000532957.5:n.2128C>G
NM_000238.3:c.1905C>G , LRG_288t1:c.1905C>G NP_000229.1:p.Asn635Lys
NM_001204798.1:c.885C>G NP_001191727.1:p.Asn295Lys
NM_172056.2:c.1905C>G , LRG_288t2:c.1905C>G NP_742053.1:p.Asn635Lys
NM_172057.2:c.885C>G , LRG_288t3:c.885C>G NP_742054.1:p.Asn295Lys
XM_011516185.1:c.1605C>G XP_011514487.1:p.Asn535Lys
XM_011516186.1:c.1905C>G XP_011514488.1:p.Asn635Lys
XM_011516185.2:c.1605C>G XP_011514487.1:p.Asn535Lys
XM_011516186.3:c.1905C>G XP_011514488.1:p.Asn635Lys
XM_017012195.1:c.1755C>G XP_016867684.1:p.Asn585Lys
XM_017012196.1:c.1728C>G XP_016867685.1:p.Asn576Lys
NM_000238.4:c.1905C>G MANE Select NP_000229.1:p.Asn635Lys
NM_001204798.2:c.885C>G NP_001191727.1:p.Asn295Lys
NM_172057.3:c.885C>G NP_742054.1:p.Asn295Lys
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