Canonical Allele Identifier: CA379135214

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588848-A-T
• MyVariant Identifiers: chr11:g.2610078A>T (hg19) ; chr11:g.2588848A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588848A>T , CM000673.2:g.2588848A>T	GRCh38
NC_000011.9:g.2610078A>T , CM000673.1:g.2610078A>T	GRCh37
NC_000011.8:g.2566654A>T	NCBI36
NG_008935.1:g.148858A>T , LRG_287:g.148858A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1030A>T	ENSP00000434560.2:p.Ser344Cys
ENST00000646564.2:c.847A>T	ENSP00000495806.2:p.Ser283Cys
ENST00000155840.12:c.1387A>T MANE Select	ENSP00000155840.2:p.Ser463Cys
ENST00000335475.6:c.1006A>T	ENSP00000334497.5:p.Ser336Cys
ENST00000646564.1:c.493A>T	ENSP00000495806.1:p.Ser165Cys
ENST00000155840.9:c.1387A>T	ENSP00000155840.2:p.Ser463Cys
ENST00000335475.5:c.1006A>T	ENSP00000334497.5:p.Ser336Cys
NM_000218.2:c.1387A>T , LRG_287t1:c.1387A>T	NP_000209.2:p.Ser463Cys
NM_181798.1:c.1006A>T , LRG_287t2:c.1006A>T	NP_861463.1:p.Ser336Cys
NM_000218.3:c.1387A>T MANE Select	NP_000209.2:p.Ser463Cys