Canonical Allele Identifier: CA379121183

Gene: KCNQ1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.192T>A
ENST00000496887.7:c.134T>A	ENSP00000434560.2:p.Ile45Asn
ENST00000646564.2:c.395T>A	ENSP00000495806.2:p.Ile132Asn
ENST00000155840.12:c.395T>A MANE Select	ENSP00000155840.2:p.Ile132Asn
ENST00000335475.6:c.14T>A	ENSP00000334497.5:p.Ile5Asn
ENST00000646564.1:c.41T>A	ENSP00000495806.1:p.Ile14Asn
ENST00000155840.9:c.395T>A	ENSP00000155840.2:p.Ile132Asn
ENST00000335475.5:c.14T>A	ENSP00000334497.5:p.Ile5Asn
ENST00000345015.4:n.264T>A
ENST00000380776.4:c.185T>A	ENSP00000370153.4:p.Ile62Asn
ENST00000496887.6:c.134T>A	ENSP00000434560.1:p.Ile45Asn
NM_000218.2:c.395T>A , LRG_287t1:c.395T>A	NP_000209.2:p.Ile132Asn
NM_181798.1:c.14T>A , LRG_287t2:c.14T>A	NP_861463.1:p.Ile5Asn
NM_000218.3:c.395T>A MANE Select	NP_000209.2:p.Ile132Asn