Canonical Allele Identifier: CA379121257

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549177T>C (hg19) ; chr11:g.2527947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527947T>C , CM000673.2:g.2527947T>C	GRCh38
NC_000011.9:g.2549177T>C , CM000673.1:g.2549177T>C	GRCh37
NC_000011.8:g.2505753T>C	NCBI36
NG_008935.1:g.87957T>C , LRG_287:g.87957T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.203T>C
ENST00000496887.7:c.145T>C	ENSP00000434560.2:p.Cys49Arg
ENST00000646564.2:c.406T>C	ENSP00000495806.2:p.Cys136Arg
ENST00000155840.12:c.406T>C MANE Select	ENSP00000155840.2:p.Cys136Arg
ENST00000335475.6:c.25T>C	ENSP00000334497.5:p.Cys9Arg
ENST00000646564.1:c.52T>C	ENSP00000495806.1:p.Cys18Arg
ENST00000155840.9:c.406T>C	ENSP00000155840.2:p.Cys136Arg
ENST00000335475.5:c.25T>C	ENSP00000334497.5:p.Cys9Arg
ENST00000345015.4:n.275T>C
ENST00000380776.4:c.196T>C	ENSP00000370153.4:p.Cys66Arg
ENST00000496887.6:c.145T>C	ENSP00000434560.1:p.Cys49Arg
NM_000218.2:c.406T>C , LRG_287t1:c.406T>C	NP_000209.2:p.Cys136Arg
NM_181798.1:c.25T>C , LRG_287t2:c.25T>C	NP_861463.1:p.Cys9Arg
NM_000218.3:c.406T>C MANE Select	NP_000209.2:p.Cys136Arg