Canonical Allele Identifier: CA379130917

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572024-T-A
• MyVariant Identifiers: chr11:g.2593254T>A (hg19) ; chr11:g.2572024T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572024T>A , CM000673.2:g.2572024T>A	GRCh38
NC_000011.9:g.2593254T>A , CM000673.1:g.2593254T>A	GRCh37
NC_000011.8:g.2549830T>A	NCBI36
NG_008935.1:g.132034T>A , LRG_287:g.132034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.434T>A	ENSP00000434560.2:p.Phe145Tyr
ENST00000646564.2:c.478-11411T>A	ENSP00000495806.2:n.478-11411T>A
ENST00000155840.12:c.695T>A MANE Select	ENSP00000155840.2:p.Phe232Tyr
ENST00000335475.6:c.314T>A	ENSP00000334497.5:p.Phe105Tyr
ENST00000646564.1:c.124-11411T>A	ENSP00000495806.1:n.124-11411T>A
ENST00000155840.9:c.695T>A	ENSP00000155840.2:p.Phe232Tyr
ENST00000335475.5:c.314T>A	ENSP00000334497.5:p.Phe105Tyr
ENST00000496887.6:c.434T>A	ENSP00000434560.1:p.Phe145Tyr
NM_000218.2:c.695T>A , LRG_287t1:c.695T>A	NP_000209.2:p.Phe232Tyr
NM_181798.1:c.314T>A , LRG_287t2:c.314T>A	NP_861463.1:p.Phe105Tyr
NM_000218.3:c.695T>A MANE Select	NP_000209.2:p.Phe232Tyr