Canonical Allele Identifier: CA379133119

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604762T>A (hg19) ; chr11:g.2583532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583532T>A , CM000673.2:g.2583532T>A	GRCh38
NC_000011.9:g.2604762T>A , CM000673.1:g.2604762T>A	GRCh37
NC_000011.8:g.2561338T>A	NCBI36
NG_008935.1:g.143542T>A , LRG_287:g.143542T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.758T>A	ENSP00000434560.2:p.Phe253Tyr
ENST00000646564.2:c.575T>A	ENSP00000495806.2:p.Phe192Tyr
ENST00000155840.12:c.1019T>A MANE Select	ENSP00000155840.2:p.Phe340Tyr
ENST00000335475.6:c.638T>A	ENSP00000334497.5:p.Phe213Tyr
ENST00000646564.1:c.221T>A	ENSP00000495806.1:p.Phe74Tyr
ENST00000155840.9:c.1019T>A	ENSP00000155840.2:p.Phe340Tyr
ENST00000335475.5:c.638T>A	ENSP00000334497.5:p.Phe213Tyr
NM_000218.2:c.1019T>A , LRG_287t1:c.1019T>A	NP_000209.2:p.Phe340Tyr
NM_181798.1:c.638T>A , LRG_287t2:c.638T>A	NP_861463.1:p.Phe213Tyr
NM_000218.3:c.1019T>A MANE Select	NP_000209.2:p.Phe340Tyr