Canonical Allele Identifier: CA216229488
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2745052G>A , CM000673.2:g.2745052G>A GRCh38
NC_000011.9:g.2766282G>A , CM000673.1:g.2766282G>A GRCh37
NC_000011.8:g.2722858G>A NCBI36
NG_008935.1:g.305062G>A , LRG_287:g.305062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1158-23792G>A ENSP00000434560.2:n.1158-23792G>A
ENST00000646564.2:c.975-23792G>A ENSP00000495806.2:n.975-23792G>A
ENST00000155840.12:c.1515-23792G>A MANE Select ENSP00000155840.2:n.1515-23792G>A
ENST00000335475.6:c.1134-23792G>A ENSP00000334497.5:n.1134-23792G>A
ENST00000646564.1:c.621-23792G>A ENSP00000495806.1:n.621-23792G>A
ENST00000155840.9:c.1515-23792G>A ENSP00000155840.2:n.1515-23792G>A
ENST00000335475.5:c.1134-23792G>A ENSP00000334497.5:n.1134-23792G>A
NM_000218.2:c.1515-23792G>A , LRG_287t1:c.1515-23792G>A NP_000209.2:n.1515-23792G>A
NM_181798.1:c.1134-23792G>A , LRG_287t2:c.1134-23792G>A NP_861463.1:n.1134-23792G>A
NM_000218.3:c.1515-23792G>A MANE Select NP_000209.2:n.1515-23792G>A
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