Canonical Allele Identifier: CA16605272
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389141
ClinVar RCV Id: RCV000426599 RCV000466780
dbSNP Id: rs1057523338
MyVariant Identifiers: chr7:g.150648181T>C (hg19) chr7:g.150951093T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951093T>C , CM000669.2:g.150951093T>C GRCh38
NC_000007.13:g.150648181T>C , CM000669.1:g.150648181T>C GRCh37
NC_000007.12:g.150279114T>C NCBI36
NG_008916.1:g.31834A>G , LRG_288:g.31834A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1271A>G
ENST00000683359.1:n.97A>G
ENST00000684241.1:n.2806A>G
ENST00000262186.10:c.1973A>G MANE Select ENSP00000262186.5:p.Asn658Ser
ENST00000330883.9:c.953A>G ENSP00000328531.4:p.Asn318Ser
ENST00000262186.9:c.1973A>G ENSP00000262186.5:p.Asn658Ser
ENST00000330883.8:c.953A>G ENSP00000328531.4:p.Asn318Ser
ENST00000430723.4:c.1625A>G ENSP00000387657.4:p.Asn542Ser
ENST00000461280.1:n.1260A>G
ENST00000473610.5:n.1605A>G
ENST00000532957.5:n.2196A>G
NM_000238.3:c.1973A>G , LRG_288t1:c.1973A>G NP_000229.1:p.Asn658Ser
NM_001204798.1:c.953A>G NP_001191727.1:p.Asn318Ser
NM_172056.2:c.1973A>G , LRG_288t2:c.1973A>G NP_742053.1:p.Asn658Ser
NM_172057.2:c.953A>G , LRG_288t3:c.953A>G NP_742054.1:p.Asn318Ser
XM_011516185.1:c.1673A>G XP_011514487.1:p.Asn558Ser
XM_011516186.1:c.1973A>G XP_011514488.1:p.Asn658Ser
XM_011516185.2:c.1673A>G XP_011514487.1:p.Asn558Ser
XM_011516186.3:c.1973A>G XP_011514488.1:p.Asn658Ser
XM_017012195.1:c.1823A>G XP_016867684.1:p.Asn608Ser
XM_017012196.1:c.1796A>G XP_016867685.1:p.Asn599Ser
NM_000238.4:c.1973A>G MANE Select NP_000229.1:p.Asn658Ser
NM_001204798.2:c.953A>G NP_001191727.1:p.Asn318Ser
NM_172057.3:c.953A>G NP_742054.1:p.Asn318Ser
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