Canonical Allele Identifier: CA379130984
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572062G>A
GRCh37 chr11:g.2593292G>A
Revel Score:
ENST00000496887 0.939
ENST00000155840 (MANE Select) 0.939
ENST00000335475 0.939
ClinVar RCV:
RCV001222321
ClinVar Variation:
950580
dbSNP:
1060500628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572062G>A , CM000673.2:g.2572062G>A GRCh38
NC_000011.9:g.2593292G>A , CM000673.1:g.2593292G>A GRCh37
NC_000011.8:g.2549868G>A NCBI36
NG_008935.1:g.132072G>A , LRG_287:g.132072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.472G>A ENSP00000434560.2:p.Gly158Arg
ENST00000646564.2:c.478-11373G>A ENSP00000495806.2:n.478-11373G>A
ENST00000155840.12:c.733G>A MANE Select ENSP00000155840.2:p.Gly245Arg
ENST00000335475.6:c.352G>A ENSP00000334497.5:p.Gly118Arg
ENST00000646564.1:c.124-11373G>A ENSP00000495806.1:n.124-11373G>A
ENST00000155840.9:c.733G>A ENSP00000155840.2:p.Gly245Arg
ENST00000335475.5:c.352G>A ENSP00000334497.5:p.Gly118Arg
ENST00000496887.6:c.472G>A ENSP00000434560.1:p.Gly158Arg
NM_000218.2:c.733G>A , LRG_287t1:c.733G>A NP_000209.2:p.Gly245Arg
NM_181798.1:c.352G>A , LRG_287t2:c.352G>A NP_861463.1:p.Gly118Arg
NM_000218.3:c.733G>A MANE Select NP_000209.2:p.Gly245Arg
Search 100 bp 5'
Search 100 bp 3'