Canonical Allele Identifier: CA379135165

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1360447932
• gnomAD v2: 11-2610067-A-T
• gnomAD v4: 11-2588837-A-T
• MyVariant Identifiers: chr11:g.2610067A>T (hg19) ; chr11:g.2588837A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588837A>T , CM000673.2:g.2588837A>T	GRCh38
NC_000011.9:g.2610067A>T , CM000673.1:g.2610067A>T	GRCh37
NC_000011.8:g.2566643A>T	NCBI36
NG_008935.1:g.148847A>T , LRG_287:g.148847A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1019A>T	ENSP00000434560.2:p.Asp340Val
ENST00000646564.2:c.836A>T	ENSP00000495806.2:p.Asp279Val
ENST00000155840.12:c.1376A>T MANE Select	ENSP00000155840.2:p.Asp459Val
ENST00000335475.6:c.995A>T	ENSP00000334497.5:p.Asp332Val
ENST00000646564.1:c.482A>T	ENSP00000495806.1:p.Asp161Val
ENST00000155840.9:c.1376A>T	ENSP00000155840.2:p.Asp459Val
ENST00000335475.5:c.995A>T	ENSP00000334497.5:p.Asp332Val
NM_000218.2:c.1376A>T , LRG_287t1:c.1376A>T	NP_000209.2:p.Asp459Val
NM_181798.1:c.995A>T , LRG_287t2:c.995A>T	NP_861463.1:p.Asp332Val
NM_000218.3:c.1376A>T MANE Select	NP_000209.2:p.Asp459Val