Canonical Allele Identifier: CA379129939
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570707G>C
GRCh37 chr11:g.2591937G>C
Revel Score:
ENST00000496887 0.911
ENST00000155840 (MANE Select) 0.911
ENST00000335475 0.911
gnomAD v4:
chr11-2570707-G-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV001779482
ClinVar Variation:
1321388
dbSNP:
794728568
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570707G>C , CM000673.2:g.2570707G>C GRCh38
NC_000011.9:g.2591937G>C , CM000673.1:g.2591937G>C GRCh37
NC_000011.8:g.2548513G>C NCBI36
NG_008935.1:g.130717G>C , LRG_287:g.130717G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.296G>C ENSP00000434560.2:p.Gly99Ala
ENST00000646564.2:c.478-12728G>C ENSP00000495806.2:n.478-12728G>C
ENST00000155840.12:c.557G>C MANE Select ENSP00000155840.2:p.Gly186Ala
ENST00000335475.6:c.176G>C ENSP00000334497.5:p.Gly59Ala
ENST00000646564.1:c.124-12728G>C ENSP00000495806.1:n.124-12728G>C
ENST00000155840.9:c.557G>C ENSP00000155840.2:p.Gly186Ala
ENST00000335475.5:c.176G>C ENSP00000334497.5:p.Gly59Ala
ENST00000496887.6:c.296G>C ENSP00000434560.1:p.Gly99Ala
NM_000218.2:c.557G>C , LRG_287t1:c.557G>C NP_000209.2:p.Gly186Ala
NM_181798.1:c.176G>C , LRG_287t2:c.176G>C NP_861463.1:p.Gly59Ala
NM_000218.3:c.557G>C MANE Select NP_000209.2:p.Gly186Ala
Search 100 bp 5'
Search 100 bp 3'