Canonical Allele Identifier: CA379117591

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466671G>C (hg19) ; chr11:g.2445441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445441G>C , CM000673.2:g.2445441G>C	GRCh38
NC_000011.9:g.2466671G>C , CM000673.1:g.2466671G>C	GRCh37
NC_000011.8:g.2423247G>C	NCBI36
NG_008935.1:g.5451G>C , LRG_287:g.5451G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.82G>C	ENSP00000434560.2:p.Glu28Gln
ENST00000646564.2:c.343G>C	ENSP00000495806.2:p.Glu115Gln
ENST00000155840.12:c.343G>C MANE Select	ENSP00000155840.2:p.Glu115Gln
ENST00000155840.9:c.343G>C	ENSP00000155840.2:p.Glu115Gln
ENST00000345015.4:n.120G>C
ENST00000496887.6:c.82G>C	ENSP00000434560.1:p.Glu28Gln
NM_000218.2:c.343G>C , LRG_287t1:c.343G>C	NP_000209.2:p.Glu115Gln
NM_000218.3:c.343G>C MANE Select	NP_000209.2:p.Glu115Gln