Canonical Allele Identifier: CA472415609
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178080
ClinVar RCV Id: RCV002588508
dbSNP Id: rs773966802
gnomAD v3: 11-2445119-G-C
gnomAD v4: 11-2445119-G-C
MyVariant Identifiers: chr11:g.2466349G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445119G>C , CM000673.2:g.2445119G>C GRCh38
NC_000011.9:g.2466349G>C , CM000673.1:g.2466349G>C GRCh37
NC_000011.8:g.2422925G>C NCBI36
NG_008935.1:g.5129G>C , LRG_287:g.5129G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-264G>C ENSP00000434560.2:n.24-264G>C
ENST00000646564.2:c.21G>C ENSP00000495806.2:p.Pro7=
ENST00000155840.12:c.21G>C MANE Select ENSP00000155840.2:p.Pro7=
ENST00000155840.9:c.21G>C ENSP00000155840.2:p.Pro7=
ENST00000496887.6:c.24-264G>C ENSP00000434560.1:n.24-264G>C
NM_000218.2:c.21G>C , LRG_287t1:c.21G>C NP_000209.2:p.Pro7=
NM_000218.3:c.21G>C MANE Select NP_000209.2:p.Pro7=
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