Canonical Allele Identifier: CA379121143

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549160T>A (hg19) ; chr11:g.2527930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527930T>A , CM000673.2:g.2527930T>A	GRCh38
NC_000011.9:g.2549160T>A , CM000673.1:g.2549160T>A	GRCh37
NC_000011.8:g.2505736T>A	NCBI36
NG_008935.1:g.87940T>A , LRG_287:g.87940T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.186T>A
ENST00000496887.7:c.128T>A	ENSP00000434560.2:p.Phe43Tyr
ENST00000646564.2:c.389T>A	ENSP00000495806.2:p.Phe130Tyr
ENST00000155840.12:c.389T>A MANE Select	ENSP00000155840.2:p.Phe130Tyr
ENST00000335475.6:c.8T>A	ENSP00000334497.5:p.Phe3Tyr
ENST00000646564.1:c.35T>A	ENSP00000495806.1:p.Phe12Tyr
ENST00000155840.9:c.389T>A	ENSP00000155840.2:p.Phe130Tyr
ENST00000335475.5:c.8T>A	ENSP00000334497.5:p.Phe3Tyr
ENST00000345015.4:n.258T>A
ENST00000380776.4:c.179T>A	ENSP00000370153.4:p.Phe60Tyr
ENST00000496887.6:c.128T>A	ENSP00000434560.1:p.Phe43Tyr
NM_000218.2:c.389T>A , LRG_287t1:c.389T>A	NP_000209.2:p.Phe130Tyr
NM_181798.1:c.8T>A , LRG_287t2:c.8T>A	NP_861463.1:p.Phe3Tyr
NM_000218.3:c.389T>A MANE Select	NP_000209.2:p.Phe130Tyr