Canonical Allele Identifier: CA379121276

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2527948-G-A
• MyVariant Identifiers: chr11:g.2549178G>A (hg19) ; chr11:g.2527948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527948G>A , CM000673.2:g.2527948G>A	GRCh38
NC_000011.9:g.2549178G>A , CM000673.1:g.2549178G>A	GRCh37
NC_000011.8:g.2505754G>A	NCBI36
NG_008935.1:g.87958G>A , LRG_287:g.87958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.204G>A
ENST00000496887.7:c.146G>A	ENSP00000434560.2:p.Cys49Tyr
ENST00000646564.2:c.407G>A	ENSP00000495806.2:p.Cys136Tyr
ENST00000155840.12:c.407G>A MANE Select	ENSP00000155840.2:p.Cys136Tyr
ENST00000335475.6:c.26G>A	ENSP00000334497.5:p.Cys9Tyr
ENST00000646564.1:c.53G>A	ENSP00000495806.1:p.Cys18Tyr
ENST00000155840.9:c.407G>A	ENSP00000155840.2:p.Cys136Tyr
ENST00000335475.5:c.26G>A	ENSP00000334497.5:p.Cys9Tyr
ENST00000345015.4:n.276G>A
ENST00000380776.4:c.197G>A	ENSP00000370153.4:p.Cys66Tyr
ENST00000496887.6:c.146G>A	ENSP00000434560.1:p.Cys49Tyr
NM_000218.2:c.407G>A , LRG_287t1:c.407G>A	NP_000209.2:p.Cys136Tyr
NM_181798.1:c.26G>A , LRG_287t2:c.26G>A	NP_861463.1:p.Cys9Tyr
NM_000218.3:c.407G>A MANE Select	NP_000209.2:p.Cys136Tyr