Canonical Allele Identifier: CA006546
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847860C>G
GRCh37 chr11:g.2869090C>G
Revel Score:
ENST00000155840 (MANE Select) 0.602
ENST00000335475 0.602
gnomAD v4:
chr11-2847860-C-G
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 7.3e-7 (NFE)
ClinVar RCV:
RCV000057648
RCV003531944
ClinVar Variation:
53024
dbSNP:
199472822
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847860C>G , CM000673.2:g.2847860C>G GRCh38
NC_000011.9:g.2869090C>G , CM000673.1:g.2869090C>G GRCh37
NC_000011.8:g.2825666C>G NCBI36
NG_008935.1:g.407870C>G , LRG_287:g.407870C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1531C>G (KCNQ1) ENSP00000434560.2:p.Pro511Ala
ENST00000155840.12:c.1888C>G (KCNQ1) MANE Select ENSP00000155840.2:p.Pro630Ala
ENST00000335475.6:c.1507C>G (KCNQ1) ENSP00000334497.5:p.Pro503Ala
ENST00000526095.2:c.292C>G (KCNQ1) ENSP00000494939.1:p.Pro98Ala
ENST00000155840.9:c.1888C>G (KCNQ1) ENSP00000155840.2:p.Pro630Ala
ENST00000335475.5:c.1507C>G (KCNQ1) ENSP00000334497.5:p.Pro503Ala
ENST00000526095.1:n.395C>G (KCNQ1)
NM_000218.2:c.1888C>G , LRG_287t1:c.1888C>G (KCNQ1) NP_000209.2:p.Pro630Ala
NM_181798.1:c.1507C>G , LRG_287t2:c.1507C>G (KCNQ1) NP_861463.1:p.Pro503Ala
NR_130721.1:n.778-7418G>C (KCNQ1-AS1)
NM_000218.3:c.1888C>G (KCNQ1) MANE Select NP_000209.2:p.Pro630Ala
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