Canonical Allele Identifier: CA472416258

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466664C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445434C>T , CM000673.2:g.2445434C>T	GRCh38
NC_000011.9:g.2466664C>T , CM000673.1:g.2466664C>T	GRCh37
NC_000011.8:g.2423240C>T	NCBI36
NG_008935.1:g.5444C>T , LRG_287:g.5444C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.75C>T	ENSP00000434560.2:p.Asn25=
ENST00000646564.2:c.336C>T	ENSP00000495806.2:p.Asn112=
ENST00000155840.12:c.336C>T MANE Select	ENSP00000155840.2:p.Asn112=
ENST00000155840.9:c.336C>T	ENSP00000155840.2:p.Asn112=
ENST00000345015.4:n.113C>T
ENST00000496887.6:c.75C>T	ENSP00000434560.1:p.Asn25=
NM_000218.2:c.336C>T , LRG_287t1:c.336C>T	NP_000209.2:p.Asn112=
NM_000218.3:c.336C>T MANE Select	NP_000209.2:p.Asn112=