Canonical Allele Identifier: CA216345218
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847860C>T
GRCh37 chr11:g.2869090C>T
Revel Score:
ENST00000155840 (MANE Select) 0.616
ENST00000335475 0.616
gnomAD v2:
11:2869090 C / T
gnomAD v3:
11:2847860 C / T
gnomAD v4:
chr11-2847860-C-T
Joint Max Group AF 0.00000776 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000664 (NFE)
ClinVar RCV:
RCV000825357
RCV001858386
ClinVar Variation:
666845
dbSNP:
199472822
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1531C>T (KCNQ1) ENSP00000434560.2:p.Pro511Ser
ENST00000155840.12:c.1888C>T (KCNQ1) MANE Select ENSP00000155840.2:p.Pro630Ser
ENST00000335475.6:c.1507C>T (KCNQ1) ENSP00000334497.5:p.Pro503Ser
ENST00000526095.2:c.292C>T (KCNQ1) ENSP00000494939.1:p.Pro98Ser
ENST00000155840.9:c.1888C>T (KCNQ1) ENSP00000155840.2:p.Pro630Ser
ENST00000335475.5:c.1507C>T (KCNQ1) ENSP00000334497.5:p.Pro503Ser
ENST00000526095.1:n.395C>T (KCNQ1)
NM_000218.2:c.1888C>T , LRG_287t1:c.1888C>T (KCNQ1) NP_000209.2:p.Pro630Ser
NM_181798.1:c.1507C>T , LRG_287t2:c.1507C>T (KCNQ1) NP_861463.1:p.Pro503Ser
NR_130721.1:n.778-7418G>A (KCNQ1-AS1)
NM_000218.3:c.1888C>T (KCNQ1) MANE Select NP_000209.2:p.Pro630Ser
Search 100 bp 5'
Search 100 bp 3'