Canonical Allele Identifier: CA379135141

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588831-C-A
• MyVariant Identifiers: chr11:g.2610061C>A (hg19) ; chr11:g.2588831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588831C>A , CM000673.2:g.2588831C>A	GRCh38
NC_000011.9:g.2610061C>A , CM000673.1:g.2610061C>A	GRCh37
NC_000011.8:g.2566637C>A	NCBI36
NG_008935.1:g.148841C>A , LRG_287:g.148841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1013C>A	ENSP00000434560.2:p.Ser338Tyr
ENST00000646564.2:c.830C>A	ENSP00000495806.2:p.Ser277Tyr
ENST00000155840.12:c.1370C>A MANE Select	ENSP00000155840.2:p.Ser457Tyr
ENST00000335475.6:c.989C>A	ENSP00000334497.5:p.Ser330Tyr
ENST00000646564.1:c.476C>A	ENSP00000495806.1:p.Ser159Tyr
ENST00000155840.9:c.1370C>A	ENSP00000155840.2:p.Ser457Tyr
ENST00000335475.5:c.989C>A	ENSP00000334497.5:p.Ser330Tyr
NM_000218.2:c.1370C>A , LRG_287t1:c.1370C>A	NP_000209.2:p.Ser457Tyr
NM_181798.1:c.989C>A , LRG_287t2:c.989C>A	NP_861463.1:p.Ser330Tyr
NM_000218.3:c.1370C>A MANE Select	NP_000209.2:p.Ser457Tyr