Canonical Allele Identifier: CA008890
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2583466A>C
GRCh37 chr11:g.2604696A>C
Revel Score:
ENST00000155840 (MANE Select) 0.721
ENST00000335475 0.721
ClinVar RCV:
RCV000182141
ClinVar Variation:
200827
dbSNP:
794728516
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583466A>C , CM000673.2:g.2583466A>C GRCh38
NC_000011.9:g.2604696A>C , CM000673.1:g.2604696A>C GRCh37
NC_000011.8:g.2561272A>C NCBI36
NG_008935.1:g.143476A>C , LRG_287:g.143476A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.692A>C ENSP00000434560.2:p.Lys231Thr
ENST00000646564.2:c.509A>C ENSP00000495806.2:p.Lys170Thr
ENST00000155840.12:c.953A>C MANE Select ENSP00000155840.2:p.Lys318Thr
ENST00000335475.6:c.572A>C ENSP00000334497.5:p.Lys191Thr
ENST00000646564.1:c.155A>C ENSP00000495806.1:p.Lys52Thr
ENST00000155840.9:c.953A>C ENSP00000155840.2:p.Lys318Thr
ENST00000335475.5:c.572A>C ENSP00000334497.5:p.Lys191Thr
NM_000218.2:c.953A>C , LRG_287t1:c.953A>C NP_000209.2:p.Lys318Thr
NM_181798.1:c.572A>C , LRG_287t2:c.572A>C NP_861463.1:p.Lys191Thr
NM_000218.3:c.953A>C MANE Select NP_000209.2:p.Lys318Thr
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