Canonical Allele Identifier: CA008134
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572089G>C
GRCh37 chr11:g.2593319G>C
Revel Score:
ENST00000496887 0.907
ENST00000155840 (MANE Select) 0.907
ENST00000335475 0.907
ClinVar RCV:
RCV000057750
ClinVar Variation:
67104
dbSNP:
120074179
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572089G>C , CM000673.2:g.2572089G>C GRCh38
NC_000011.9:g.2593319G>C , CM000673.1:g.2593319G>C GRCh37
NC_000011.8:g.2549895G>C NCBI36
NG_008935.1:g.132099G>C , LRG_287:g.132099G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.499G>C ENSP00000434560.2:p.Val167Leu
ENST00000646564.2:c.478-11346G>C ENSP00000495806.2:n.478-11346G>C
ENST00000155840.12:c.760G>C MANE Select ENSP00000155840.2:p.Val254Leu
ENST00000335475.6:c.379G>C ENSP00000334497.5:p.Val127Leu
ENST00000646564.1:c.124-11346G>C ENSP00000495806.1:n.124-11346G>C
ENST00000155840.9:c.760G>C ENSP00000155840.2:p.Val254Leu
ENST00000335475.5:c.379G>C ENSP00000334497.5:p.Val127Leu
ENST00000496887.6:c.499G>C ENSP00000434560.1:p.Val167Leu
NM_000218.2:c.760G>C , LRG_287t1:c.760G>C NP_000209.2:p.Val254Leu
NM_181798.1:c.379G>C , LRG_287t2:c.379G>C NP_861463.1:p.Val127Leu
NM_000218.3:c.760G>C MANE Select NP_000209.2:p.Val254Leu
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