Canonical Allele Identifier: CA379132957

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604669C>A (hg19) ; chr11:g.2583439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583439C>A , CM000673.2:g.2583439C>A	GRCh38
NC_000011.9:g.2604669C>A , CM000673.1:g.2604669C>A	GRCh37
NC_000011.8:g.2561245C>A	NCBI36
NG_008935.1:g.143449C>A , LRG_287:g.143449C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.665C>A	ENSP00000434560.2:p.Thr222Lys
ENST00000646564.2:c.482C>A	ENSP00000495806.2:p.Thr161Lys
ENST00000155840.12:c.926C>A MANE Select	ENSP00000155840.2:p.Thr309Lys
ENST00000335475.6:c.545C>A	ENSP00000334497.5:p.Thr182Lys
ENST00000646564.1:c.128C>A	ENSP00000495806.1:p.Thr43Lys
ENST00000155840.9:c.926C>A	ENSP00000155840.2:p.Thr309Lys
ENST00000335475.5:c.545C>A	ENSP00000334497.5:p.Thr182Lys
NM_000218.2:c.926C>A , LRG_287t1:c.926C>A	NP_000209.2:p.Thr309Lys
NM_181798.1:c.545C>A , LRG_287t2:c.545C>A	NP_861463.1:p.Thr182Lys
NM_000218.3:c.926C>A MANE Select	NP_000209.2:p.Thr309Lys