Canonical Allele Identifier: CA379131559

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2594158T>A (hg19) ; chr11:g.2572928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572928T>A , CM000673.2:g.2572928T>A	GRCh38
NC_000011.9:g.2594158T>A , CM000673.1:g.2594158T>A	GRCh37
NC_000011.8:g.2550734T>A	NCBI36
NG_008935.1:g.132938T>A , LRG_287:g.132938T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.602T>A	ENSP00000434560.2:p.Val201Glu
ENST00000646564.2:c.478-10507T>A	ENSP00000495806.2:n.478-10507T>A
ENST00000155840.12:c.863T>A MANE Select	ENSP00000155840.2:p.Val288Glu
ENST00000335475.6:c.482T>A	ENSP00000334497.5:p.Val161Glu
ENST00000646564.1:c.124-10507T>A	ENSP00000495806.1:n.124-10507T>A
ENST00000155840.9:c.863T>A	ENSP00000155840.2:p.Val288Glu
ENST00000335475.5:c.482T>A	ENSP00000334497.5:p.Val161Glu
NM_000218.2:c.863T>A , LRG_287t1:c.863T>A	NP_000209.2:p.Val288Glu
NM_181798.1:c.482T>A , LRG_287t2:c.482T>A	NP_861463.1:p.Val161Glu
NM_000218.3:c.863T>A MANE Select	NP_000209.2:p.Val288Glu