Canonical Allele Identifier: CA2612008755
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2768984-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768984A>C , CM000673.2:g.2768984A>C GRCh38
NC_000011.9:g.2790214A>C , CM000673.1:g.2790214A>C GRCh37
NC_000011.8:g.2746790A>C NCBI36
NG_008935.1:g.328994A>C , LRG_287:g.328994A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1233+65A>C ENSP00000434560.2:n.1233+65A>C
ENST00000646564.2:c.1050+65A>C ENSP00000495806.2:n.1050+65A>C
ENST00000155840.12:c.1590+65A>C MANE Select ENSP00000155840.2:n.1590+65A>C
ENST00000335475.6:c.1209+65A>C ENSP00000334497.5:n.1209+65A>C
ENST00000646564.1:c.696+65A>C ENSP00000495806.1:n.696+65A>C
ENST00000155840.9:c.1590+65A>C ENSP00000155840.2:n.1590+65A>C
ENST00000335475.5:c.1209+65A>C ENSP00000334497.5:n.1209+65A>C
NM_000218.2:c.1590+65A>C , LRG_287t1:c.1590+65A>C NP_000209.2:n.1590+65A>C
NM_181798.1:c.1209+65A>C , LRG_287t2:c.1209+65A>C NP_861463.1:n.1209+65A>C
NM_000218.3:c.1590+65A>C MANE Select NP_000209.2:n.1590+65A>C