Canonical Allele Identifier: CA2611999582
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445030-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445030G>T , CM000673.2:g.2445030G>T GRCh38
NC_000011.9:g.2466260G>T , CM000673.1:g.2466260G>T GRCh37
NC_000011.8:g.2422836G>T NCBI36
NG_008935.1:g.5040G>T , LRG_287:g.5040G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+322G>T ENSP00000434560.2:n.23+322G>T
ENST00000646564.2:c.-69G>T ENSP00000495806.2:n.-69G>T
ENST00000155840.12:c.-69G>T MANE Select ENSP00000155840.2:n.-69G>T
ENST00000155840.9:c.-69G>T ENSP00000155840.2:n.-69G>T
ENST00000496887.6:c.23+322G>T ENSP00000434560.1:n.23+322G>T
NM_000218.2:c.-69G>T , LRG_287t1:c.-69G>T NP_000209.2:n.-69G>T
NM_000218.3:c.-69G>T MANE Select NP_000209.2:n.-69G>T
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