Canonical Allele Identifier: CA10603201
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572020C>A
GRCh37 chr11:g.2593250C>A
Revel Score:
ENST00000496887 0.965
ENST00000155840 (MANE Select) 0.965
ENST00000335475 0.965
ClinVar RCV:
RCV000289174
RCV003319344
ClinVar Variation:
280173
dbSNP:
199473457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572020C>A , CM000673.2:g.2572020C>A GRCh38
NC_000011.9:g.2593250C>A , CM000673.1:g.2593250C>A GRCh37
NC_000011.8:g.2549826C>A NCBI36
NG_008935.1:g.132030C>A , LRG_287:g.132030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.430C>A ENSP00000434560.2:p.Arg144Ser
ENST00000646564.2:c.478-11415C>A ENSP00000495806.2:n.478-11415C>A
ENST00000155840.12:c.691C>A MANE Select ENSP00000155840.2:p.Arg231Ser
ENST00000335475.6:c.310C>A ENSP00000334497.5:p.Arg104Ser
ENST00000646564.1:c.124-11415C>A ENSP00000495806.1:n.124-11415C>A
ENST00000155840.9:c.691C>A ENSP00000155840.2:p.Arg231Ser
ENST00000335475.5:c.310C>A ENSP00000334497.5:p.Arg104Ser
ENST00000496887.6:c.430C>A ENSP00000434560.1:p.Arg144Ser
NM_000218.2:c.691C>A , LRG_287t1:c.691C>A NP_000209.2:p.Arg231Ser
NM_181798.1:c.310C>A , LRG_287t2:c.310C>A NP_861463.1:p.Arg104Ser
NM_000218.3:c.691C>A MANE Select NP_000209.2:p.Arg231Ser
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