Canonical Allele Identifier: CA379129835

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570650-T-A
• MyVariant Identifiers: chr11:g.2591880T>A (hg19) ; chr11:g.2570650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570650T>A , CM000673.2:g.2570650T>A	GRCh38
NC_000011.9:g.2591880T>A , CM000673.1:g.2591880T>A	GRCh37
NC_000011.8:g.2548456T>A	NCBI36
NG_008935.1:g.130660T>A , LRG_287:g.130660T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.239T>A	ENSP00000434560.2:p.Phe80Tyr
ENST00000646564.2:c.478-12785T>A	ENSP00000495806.2:n.478-12785T>A
ENST00000155840.12:c.500T>A MANE Select	ENSP00000155840.2:p.Phe167Tyr
ENST00000335475.6:c.119T>A	ENSP00000334497.5:p.Phe40Tyr
ENST00000646564.1:c.124-12785T>A	ENSP00000495806.1:n.124-12785T>A
ENST00000155840.9:c.500T>A	ENSP00000155840.2:p.Phe167Tyr
ENST00000335475.5:c.119T>A	ENSP00000334497.5:p.Phe40Tyr
ENST00000496887.6:c.239T>A	ENSP00000434560.1:p.Phe80Tyr
NM_000218.2:c.500T>A , LRG_287t1:c.500T>A	NP_000209.2:p.Phe167Tyr
NM_181798.1:c.119T>A , LRG_287t2:c.119T>A	NP_861463.1:p.Phe40Tyr
NM_000218.3:c.500T>A MANE Select	NP_000209.2:p.Phe167Tyr