Canonical Allele Identifier: CA008027
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572057G>C
GRCh37 chr11:g.2593287G>C
Revel Score:
ENST00000496887 0.957
ENST00000155840 (MANE Select) 0.957
ENST00000335475 0.957
ClinVar RCV:
RCV000003300
RCV000057743
ClinVar Variation:
3150
dbSNP:
120074196
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572057G>C , CM000673.2:g.2572057G>C GRCh38
NC_000011.9:g.2593287G>C , CM000673.1:g.2593287G>C GRCh37
NC_000011.8:g.2549863G>C NCBI36
NG_008935.1:g.132067G>C , LRG_287:g.132067G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.467G>C ENSP00000434560.2:p.Arg156Pro
ENST00000646564.2:c.478-11378G>C ENSP00000495806.2:n.478-11378G>C
ENST00000155840.12:c.728G>C MANE Select ENSP00000155840.2:p.Arg243Pro
ENST00000335475.6:c.347G>C ENSP00000334497.5:p.Arg116Pro
ENST00000646564.1:c.124-11378G>C ENSP00000495806.1:n.124-11378G>C
ENST00000155840.9:c.728G>C ENSP00000155840.2:p.Arg243Pro
ENST00000335475.5:c.347G>C ENSP00000334497.5:p.Arg116Pro
ENST00000496887.6:c.467G>C ENSP00000434560.1:p.Arg156Pro
NM_000218.2:c.728G>C , LRG_287t1:c.728G>C NP_000209.2:p.Arg243Pro
NM_181798.1:c.347G>C , LRG_287t2:c.347G>C NP_861463.1:p.Arg116Pro
NM_000218.3:c.728G>C MANE Select NP_000209.2:p.Arg243Pro
Search 100 bp 5'
Search 100 bp 3'