Canonical Allele Identifier: CA10638866
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
ClinVar RCV:
RCV000281297
RCV000285348
RCV000336315
RCV000375635
RCV000390924
ClinVar Variation:
304270
dbSNP:
181226788
gnomAD v2:
11:2870258 G / C
gnomAD v3:
11:2849028 G / C
gnomAD v4:
chr11-2849028-G-C
Joint Max Group AF 0.00301185 (AFR)
Genomes Max Group AF 0.0025777 (AFR)
Exomes Max Group AF 0.00424565 (AFR)
MyVariant.info:
GRCh38 chr11:g.2849028G>C
GRCh37 chr11:g.2870258G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849028G>C , CM000673.2:g.2849028G>C GRCh38
NC_000011.9:g.2870258G>C , CM000673.1:g.2870258G>C GRCh37
NC_000011.8:g.2826834G>C NCBI36
NG_008935.1:g.409038G>C , LRG_287:g.409038G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1025G>C (KCNQ1) MANE Select ENSP00000155840.2:n.*1025G>C
ENST00000155840.9:c.*1025G>C (KCNQ1) ENSP00000155840.2:n.*1025G>C
NM_000218.2:c.*1025G>C , LRG_287t1:c.*1025G>C (KCNQ1) NP_000209.2:n.*1025G>C
NM_181798.1:c.*1025G>C , LRG_287t2:c.*1025G>C (KCNQ1) NP_861463.1:n.*1025G>C
NR_130721.1:n.778-8586C>G (KCNQ1-AS1)
NM_000218.3:c.*1025G>C (KCNQ1) MANE Select NP_000209.2:n.*1025G>C
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