Canonical Allele Identifier: CA007488
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570715G>C
GRCh37 chr11:g.2591945G>C
Revel Score:
ENST00000496887 0.967
ENST00000155840 (MANE Select) 0.967
ENST00000335475 0.967
ClinVar RCV:
RCV000057703
ClinVar Variation:
67083
dbSNP:
104894252
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570715G>C , CM000673.2:g.2570715G>C GRCh38
NC_000011.9:g.2591945G>C , CM000673.1:g.2591945G>C GRCh37
NC_000011.8:g.2548521G>C NCBI36
NG_008935.1:g.130725G>C , LRG_287:g.130725G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.304G>C ENSP00000434560.2:p.Gly102Arg
ENST00000646564.2:c.478-12720G>C ENSP00000495806.2:n.478-12720G>C
ENST00000155840.12:c.565G>C MANE Select ENSP00000155840.2:p.Gly189Arg
ENST00000335475.6:c.184G>C ENSP00000334497.5:p.Gly62Arg
ENST00000646564.1:c.124-12720G>C ENSP00000495806.1:n.124-12720G>C
ENST00000155840.9:c.565G>C ENSP00000155840.2:p.Gly189Arg
ENST00000335475.5:c.184G>C ENSP00000334497.5:p.Gly62Arg
ENST00000496887.6:c.304G>C ENSP00000434560.1:p.Gly102Arg
NM_000218.2:c.565G>C , LRG_287t1:c.565G>C NP_000209.2:p.Gly189Arg
NM_181798.1:c.184G>C , LRG_287t2:c.184G>C NP_861463.1:p.Gly62Arg
NM_000218.3:c.565G>C MANE Select NP_000209.2:p.Gly189Arg
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