Canonical Allele Identifier: CA597114517
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1325864190
gnomAD v2: 11-2870058-C-G
gnomAD v4: 11-2848828-C-G
MyVariant Identifiers: chr11:g.2870058C>G (hg19) chr11:g.2848828C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848828C>G , CM000673.2:g.2848828C>G GRCh38
NC_000011.9:g.2870058C>G , CM000673.1:g.2870058C>G GRCh37
NC_000011.8:g.2826634C>G NCBI36
NG_008935.1:g.408838C>G , LRG_287:g.408838C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*825C>G (KCNQ1) ENSP00000434560.2:n.*825C>G
ENST00000155840.12:c.*825C>G (KCNQ1) MANE Select ENSP00000155840.2:n.*825C>G
ENST00000335475.6:c.*825C>G (KCNQ1) ENSP00000334497.5:n.*825C>G
ENST00000155840.9:c.*825C>G (KCNQ1) ENSP00000155840.2:n.*825C>G
NM_000218.2:c.*825C>G , LRG_287t1:c.*825C>G (KCNQ1) NP_000209.2:n.*825C>G
NM_181798.1:c.*825C>G , LRG_287t2:c.*825C>G (KCNQ1) NP_861463.1:n.*825C>G
NR_130721.1:n.778-8386G>C (KCNQ1-AS1)
NM_000218.3:c.*825C>G (KCNQ1) MANE Select NP_000209.2:n.*825C>G
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