Canonical Allele Identifier: CA10575752
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572087C>G
GRCh37 chr11:g.2593317C>G
Revel Score:
ENST00000496887 0.850
ENST00000155840 (MANE Select) 0.850
ENST00000335475 0.850
ClinVar RCV:
RCV000234788
ClinVar Variation:
207971
dbSNP:
794728513
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572087C>G , CM000673.2:g.2572087C>G GRCh38
NC_000011.9:g.2593317C>G , CM000673.1:g.2593317C>G GRCh37
NC_000011.8:g.2549893C>G NCBI36
NG_008935.1:g.132097C>G , LRG_287:g.132097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.497C>G ENSP00000434560.2:p.Ser166Cys
ENST00000646564.2:c.478-11348C>G ENSP00000495806.2:n.478-11348C>G
ENST00000155840.12:c.758C>G MANE Select ENSP00000155840.2:p.Ser253Cys
ENST00000335475.6:c.377C>G ENSP00000334497.5:p.Ser126Cys
ENST00000646564.1:c.124-11348C>G ENSP00000495806.1:n.124-11348C>G
ENST00000155840.9:c.758C>G ENSP00000155840.2:p.Ser253Cys
ENST00000335475.5:c.377C>G ENSP00000334497.5:p.Ser126Cys
ENST00000496887.6:c.497C>G ENSP00000434560.1:p.Ser166Cys
NM_000218.2:c.758C>G , LRG_287t1:c.758C>G NP_000209.2:p.Ser253Cys
NM_181798.1:c.377C>G , LRG_287t2:c.377C>G NP_861463.1:p.Ser126Cys
NM_000218.3:c.758C>G MANE Select NP_000209.2:p.Ser253Cys
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