Canonical Allele Identifier: CA379115726

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1209850120
• gnomAD v2: 11-2466348-C-A
• gnomAD v4: 11-2445118-C-A
• MyVariant Identifiers: chr11:g.2466348C>A (hg19) ; chr11:g.2445118C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445118C>A , CM000673.2:g.2445118C>A	GRCh38
NC_000011.9:g.2466348C>A , CM000673.1:g.2466348C>A	GRCh37
NC_000011.8:g.2422924C>A	NCBI36
NG_008935.1:g.5128C>A , LRG_287:g.5128C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-265C>A	ENSP00000434560.2:n.24-265C>A
ENST00000646564.2:c.20C>A	ENSP00000495806.2:p.Pro7Gln
ENST00000155840.12:c.20C>A MANE Select	ENSP00000155840.2:p.Pro7Gln
ENST00000155840.9:c.20C>A	ENSP00000155840.2:p.Pro7Gln
ENST00000496887.6:c.24-265C>A	ENSP00000434560.1:n.24-265C>A
NM_000218.2:c.20C>A , LRG_287t1:c.20C>A	NP_000209.2:p.Pro7Gln
NM_000218.3:c.20C>A MANE Select	NP_000209.2:p.Pro7Gln