Canonical Allele Identifier: CA1948160567
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445029C= , CM000673.2:g.2445029C= GRCh38
NC_000011.9:g.2466259C= , CM000673.1:g.2466259C= GRCh37
NC_000011.8:g.2422835C= NCBI36
NG_008935.1:g.5039C= , LRG_287:g.5039C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+321C= ENSP00000434560.2:n.23+321C=
ENST00000646564.2:c.-70C= ENSP00000495806.2:n.-70C=
ENST00000155840.12:c.-70C= MANE Select ENSP00000155840.2:n.-70C=
ENST00000155840.9:c.-70C= ENSP00000155840.2:n.-70C=
ENST00000496887.6:c.23+321C= ENSP00000434560.1:n.23+321C=
NM_000218.2:c.-70C= , LRG_287t1:c.-70C= NP_000209.2:n.-70C=
NM_000218.3:c.-70C= MANE Select NP_000209.2:n.-70C=
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