Canonical Allele Identifier: CA675202368
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1379390676
gnomAD v3: 11-2848421-C-G
gnomAD v4: 11-2848421-C-G
MyVariant Identifiers: chr11:g.2869651C>G (hg19) chr11:g.2848421C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848421C>G , CM000673.2:g.2848421C>G GRCh38
NC_000011.9:g.2869651C>G , CM000673.1:g.2869651C>G GRCh37
NC_000011.8:g.2826227C>G NCBI36
NG_008935.1:g.408431C>G , LRG_287:g.408431C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*418C>G (KCNQ1) ENSP00000434560.2:n.*418C>G
ENST00000155840.12:c.*418C>G (KCNQ1) MANE Select ENSP00000155840.2:n.*418C>G
ENST00000335475.6:c.*418C>G (KCNQ1) ENSP00000334497.5:n.*418C>G
ENST00000155840.9:c.*418C>G (KCNQ1) ENSP00000155840.2:n.*418C>G
ENST00000526095.1:n.956C>G (KCNQ1)
NM_000218.2:c.*418C>G , LRG_287t1:c.*418C>G (KCNQ1) NP_000209.2:n.*418C>G
NM_181798.1:c.*418C>G , LRG_287t2:c.*418C>G (KCNQ1) NP_861463.1:n.*418C>G
NR_130721.1:n.778-7979G>C (KCNQ1-AS1)
NM_000218.3:c.*418C>G (KCNQ1) MANE Select NP_000209.2:n.*418C>G
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