Canonical Allele Identifier: CA040104
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304257
dbSNP Id: rs189162344
gnomAD v2: 11-2869950-T-G
gnomAD v3: 11-2848720-T-G
gnomAD v4: 11-2848720-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848720T>G , CM000673.2:g.2848720T>G GRCh38
NC_000011.9:g.2869950T>G , CM000673.1:g.2869950T>G GRCh37
NC_000011.8:g.2826526T>G NCBI36
NG_008935.1:g.408730T>G , LRG_287:g.408730T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*717T>G (KCNQ1) ENSP00000434560.2:n.*717T>G
ENST00000155840.12:c.*717T>G (KCNQ1) MANE Select ENSP00000155840.2:n.*717T>G
ENST00000335475.6:c.*717T>G (KCNQ1) ENSP00000334497.5:n.*717T>G
ENST00000155840.9:c.*717T>G (KCNQ1) ENSP00000155840.2:n.*717T>G
NM_000218.2:c.*717T>G , LRG_287t1:c.*717T>G (KCNQ1) NP_000209.2:n.*717T>G
NM_181798.1:c.*717T>G , LRG_287t2:c.*717T>G (KCNQ1) NP_861463.1:n.*717T>G
NR_130721.1:n.778-8278A>C (KCNQ1-AS1)
NM_000218.3:c.*717T>G (KCNQ1) MANE Select NP_000209.2:n.*717T>G