Canonical Allele Identifier: CA674983573

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1470949886
• gnomAD v4: 11-2583681-C-G
• MyVariant Identifiers: chr11:g.2604911C>G (hg19) ; chr11:g.2583681C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583681C>G , CM000673.2:g.2583681C>G	GRCh38
NC_000011.9:g.2604911C>G , CM000673.1:g.2604911C>G	GRCh37
NC_000011.8:g.2561487C>G	NCBI36
NG_008935.1:g.143691C>G , LRG_287:g.143691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+136C>G	ENSP00000434560.2:n.771+136C>G
ENST00000646564.2:c.588+136C>G	ENSP00000495806.2:n.588+136C>G
ENST00000155840.12:c.1032+136C>G MANE Select	ENSP00000155840.2:n.1032+136C>G
ENST00000335475.6:c.651+136C>G	ENSP00000334497.5:n.651+136C>G
ENST00000646564.1:c.234+136C>G	ENSP00000495806.1:n.234+136C>G
ENST00000155840.9:c.1032+136C>G	ENSP00000155840.2:n.1032+136C>G
ENST00000335475.5:c.651+136C>G	ENSP00000334497.5:n.651+136C>G
NM_000218.2:c.1032+136C>G , LRG_287t1:c.1032+136C>G	NP_000209.2:n.1032+136C>G
NM_181798.1:c.651+136C>G , LRG_287t2:c.651+136C>G	NP_861463.1:n.651+136C>G
NM_000218.3:c.1032+136C>G MANE Select	NP_000209.2:n.1032+136C>G