Canonical Allele Identifier: CA006408
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200859
ClinVar RCV Id: RCV000182229
dbSNP Id: rs794728538
MyVariant Identifiers: chr11:g.2799260A>G (hg19) chr11:g.2778030A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2778030A>G , CM000673.2:g.2778030A>G GRCh38
NC_000011.9:g.2799260A>G , CM000673.1:g.2799260A>G GRCh37
NC_000011.8:g.2755836A>G NCBI36
NG_008935.1:g.338040A>G , LRG_287:g.338040A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1430A>G ENSP00000434560.2:p.Glu477Gly
ENST00000646564.2:c.1247A>G ENSP00000495806.2:p.Glu416Gly
ENST00000155840.12:c.1787A>G MANE Select ENSP00000155840.2:p.Glu596Gly
ENST00000335475.6:c.1406A>G ENSP00000334497.5:p.Glu469Gly
ENST00000526095.2:c.191A>G ENSP00000494939.1:p.Glu64Gly
ENST00000646564.1:c.893A>G ENSP00000495806.1:p.Glu298Gly
ENST00000155840.9:c.1787A>G ENSP00000155840.2:p.Glu596Gly
ENST00000335475.5:c.1406A>G ENSP00000334497.5:p.Glu469Gly
ENST00000526095.1:n.294A>G
NM_000218.2:c.1787A>G , LRG_287t1:c.1787A>G NP_000209.2:p.Glu596Gly
NM_181798.1:c.1406A>G , LRG_287t2:c.1406A>G NP_861463.1:p.Glu469Gly
NM_000218.3:c.1787A>G MANE Select NP_000209.2:p.Glu596Gly
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