Canonical Allele Identifier: CA379115732

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846014477
• gnomAD v3: 11-2445120-C-T
• gnomAD v4: 11-2445120-C-T
• MyVariant Identifiers: chr11:g.2466350C>T (hg19) ; chr11:g.2445120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445120C>T , CM000673.2:g.2445120C>T	GRCh38
NC_000011.9:g.2466350C>T , CM000673.1:g.2466350C>T	GRCh37
NC_000011.8:g.2422926C>T	NCBI36
NG_008935.1:g.5130C>T , LRG_287:g.5130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-263C>T	ENSP00000434560.2:n.24-263C>T
ENST00000646564.2:c.22C>T	ENSP00000495806.2:p.Pro8Ser
ENST00000155840.12:c.22C>T MANE Select	ENSP00000155840.2:p.Pro8Ser
ENST00000155840.9:c.22C>T	ENSP00000155840.2:p.Pro8Ser
ENST00000496887.6:c.24-263C>T	ENSP00000434560.1:n.24-263C>T
NM_000218.2:c.22C>T , LRG_287t1:c.22C>T	NP_000209.2:p.Pro8Ser
NM_000218.3:c.22C>T MANE Select	NP_000209.2:p.Pro8Ser