Canonical Allele Identifier: CA674974276

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1380710892
• gnomAD v3: 11-2572368-G-A
• gnomAD v4: 11-2572368-G-A
• MyVariant Identifiers: chr11:g.2593598G>A (hg19) ; chr11:g.2572368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572368G>A , CM000673.2:g.2572368G>A	GRCh38
NC_000011.9:g.2593598G>A , CM000673.1:g.2593598G>A	GRCh37
NC_000011.8:g.2550174G>A	NCBI36
NG_008935.1:g.132378G>A , LRG_287:g.132378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+259G>A	ENSP00000434560.2:n.519+259G>A
ENST00000646564.2:c.478-11067G>A	ENSP00000495806.2:n.478-11067G>A
ENST00000155840.12:c.780+259G>A MANE Select	ENSP00000155840.2:n.780+259G>A
ENST00000335475.6:c.399+259G>A	ENSP00000334497.5:n.399+259G>A
ENST00000646564.1:c.124-11067G>A	ENSP00000495806.1:n.124-11067G>A
ENST00000155840.9:c.780+259G>A	ENSP00000155840.2:n.780+259G>A
ENST00000335475.5:c.399+259G>A	ENSP00000334497.5:n.399+259G>A
ENST00000496887.6:c.519+259G>A	ENSP00000434560.1:n.519+259G>A
NM_000218.2:c.780+259G>A , LRG_287t1:c.780+259G>A	NP_000209.2:n.780+259G>A
NM_181798.1:c.399+259G>A , LRG_287t2:c.399+259G>A	NP_861463.1:n.399+259G>A
NM_000218.3:c.780+259G>A MANE Select	NP_000209.2:n.780+259G>A