Canonical Allele Identifier: CA2611999658
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445063-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445063C>G , CM000673.2:g.2445063C>G GRCh38
NC_000011.9:g.2466293C>G , CM000673.1:g.2466293C>G GRCh37
NC_000011.8:g.2422869C>G NCBI36
NG_008935.1:g.5073C>G , LRG_287:g.5073C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-320C>G ENSP00000434560.2:n.24-320C>G
ENST00000646564.2:c.-36C>G ENSP00000495806.2:n.-36C>G
ENST00000155840.12:c.-36C>G MANE Select ENSP00000155840.2:n.-36C>G
ENST00000155840.9:c.-36C>G ENSP00000155840.2:n.-36C>G
ENST00000496887.6:c.24-320C>G ENSP00000434560.1:n.24-320C>G
NM_000218.2:c.-36C>G , LRG_287t1:c.-36C>G NP_000209.2:n.-36C>G
NM_000218.3:c.-36C>G MANE Select NP_000209.2:n.-36C>G