Canonical Allele Identifier: CA379139081

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775972C>A , CM000673.2:g.2775972C>A	GRCh38
NC_000011.9:g.2797202C>A , CM000673.1:g.2797202C>A	GRCh37
NC_000011.8:g.2753778C>A	NCBI36
NG_008935.1:g.335982C>A , LRG_287:g.335982C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1603C>A MANE Select	NP_000209.2:p.Pro535Thr
ENST00000155840.12:c.1603C>A MANE Select	ENSP00000155840.2:p.Pro535Thr
NM_000218.2:c.1603C>A , LRG_287t1:c.1603C>A	NP_000209.2:p.Pro535Thr
NM_181798.1:c.1222C>A , LRG_287t2:c.1222C>A	NP_861463.1:p.Pro408Thr
ENST00000155840.9:c.1603C>A	ENSP00000155840.2:p.Pro535Thr
ENST00000335475.5:c.1222C>A	ENSP00000334497.5:p.Pro408Thr
ENST00000335475.6:c.1222C>A	ENSP00000334497.5:p.Pro408Thr
ENST00000496887.7:c.1246C>A	ENSP00000434560.2:p.Pro416Thr
ENST00000646564.1:c.709C>A	ENSP00000495806.1:p.Pro237Thr
ENST00000646564.2:c.1063C>A	ENSP00000495806.2:p.Pro355Thr