Canonical Allele Identifier: CA379133054

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604731T>A (hg19) ; chr11:g.2583501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583501T>A , CM000673.2:g.2583501T>A	GRCh38
NC_000011.9:g.2604731T>A , CM000673.1:g.2604731T>A	GRCh37
NC_000011.8:g.2561307T>A	NCBI36
NG_008935.1:g.143511T>A , LRG_287:g.143511T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.727T>A	ENSP00000434560.2:p.Ser243Thr
ENST00000646564.2:c.544T>A	ENSP00000495806.2:p.Ser182Thr
ENST00000155840.12:c.988T>A MANE Select	ENSP00000155840.2:p.Ser330Thr
ENST00000335475.6:c.607T>A	ENSP00000334497.5:p.Ser203Thr
ENST00000646564.1:c.190T>A	ENSP00000495806.1:p.Ser64Thr
ENST00000155840.9:c.988T>A	ENSP00000155840.2:p.Ser330Thr
ENST00000335475.5:c.607T>A	ENSP00000334497.5:p.Ser203Thr
NM_000218.2:c.988T>A , LRG_287t1:c.988T>A	NP_000209.2:p.Ser330Thr
NM_181798.1:c.607T>A , LRG_287t2:c.607T>A	NP_861463.1:p.Ser203Thr
NM_000218.3:c.988T>A MANE Select	NP_000209.2:p.Ser330Thr