Canonical Allele Identifier: CA034963
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304241
dbSNP Id: rs45570140
gnomAD v2: 11-2869538-A-C
gnomAD v3: 11-2848308-A-C
gnomAD v4: 11-2848308-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848308A>C , CM000673.2:g.2848308A>C GRCh38
NC_000011.9:g.2869538A>C , CM000673.1:g.2869538A>C GRCh37
NC_000011.8:g.2826114A>C NCBI36
NG_008935.1:g.408318A>C , LRG_287:g.408318A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*305A>C (KCNQ1) ENSP00000434560.2:n.*305A>C
ENST00000155840.12:c.*305A>C (KCNQ1) MANE Select ENSP00000155840.2:n.*305A>C
ENST00000335475.6:c.*305A>C (KCNQ1) ENSP00000334497.5:n.*305A>C
ENST00000155840.9:c.*305A>C (KCNQ1) ENSP00000155840.2:n.*305A>C
ENST00000526095.1:n.843A>C (KCNQ1)
NM_000218.2:c.*305A>C , LRG_287t1:c.*305A>C (KCNQ1) NP_000209.2:n.*305A>C
NM_181798.1:c.*305A>C , LRG_287t2:c.*305A>C (KCNQ1) NP_861463.1:n.*305A>C
NR_130721.1:n.778-7866T>G (KCNQ1-AS1)
NM_000218.3:c.*305A>C (KCNQ1) MANE Select NP_000209.2:n.*305A>C