Canonical Allele Identifier: CA379121187

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549166T>C (hg19) ; chr11:g.2527936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527936T>C , CM000673.2:g.2527936T>C	GRCh38
NC_000011.9:g.2549166T>C , CM000673.1:g.2549166T>C	GRCh37
NC_000011.8:g.2505742T>C	NCBI36
NG_008935.1:g.87946T>C , LRG_287:g.87946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.192T>C
ENST00000496887.7:c.134T>C	ENSP00000434560.2:p.Ile45Thr
ENST00000646564.2:c.395T>C	ENSP00000495806.2:p.Ile132Thr
ENST00000155840.12:c.395T>C MANE Select	ENSP00000155840.2:p.Ile132Thr
ENST00000335475.6:c.14T>C	ENSP00000334497.5:p.Ile5Thr
ENST00000646564.1:c.41T>C	ENSP00000495806.1:p.Ile14Thr
ENST00000155840.9:c.395T>C	ENSP00000155840.2:p.Ile132Thr
ENST00000335475.5:c.14T>C	ENSP00000334497.5:p.Ile5Thr
ENST00000345015.4:n.264T>C
ENST00000380776.4:c.185T>C	ENSP00000370153.4:p.Ile62Thr
ENST00000496887.6:c.134T>C	ENSP00000434560.1:p.Ile45Thr
NM_000218.2:c.395T>C , LRG_287t1:c.395T>C	NP_000209.2:p.Ile132Thr
NM_181798.1:c.14T>C , LRG_287t2:c.14T>C	NP_861463.1:p.Ile5Thr
NM_000218.3:c.395T>C MANE Select	NP_000209.2:p.Ile132Thr