Canonical Allele Identifier: CA026780

Gene: KCNQ1

Linked Data

• dbSNP Id: rs371754479
• ExAC: 11:2604808 C / G
• gnomAD v2: 11-2604808-C-G
• gnomAD v3: 11-2583578-C-G
• gnomAD v4: 11-2583578-C-G
• MyVariant Identifiers: chr11:g.2604808C>G (hg19) ; chr11:g.2583578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583578C>G , CM000673.2:g.2583578C>G	GRCh38
NC_000011.9:g.2604808C>G , CM000673.1:g.2604808C>G	GRCh37
NC_000011.8:g.2561384C>G	NCBI36
NG_008935.1:g.143588C>G , LRG_287:g.143588C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+33C>G	ENSP00000434560.2:n.771+33C>G
ENST00000646564.2:c.588+33C>G	ENSP00000495806.2:n.588+33C>G
ENST00000155840.12:c.1032+33C>G MANE Select	ENSP00000155840.2:n.1032+33C>G
ENST00000335475.6:c.651+33C>G	ENSP00000334497.5:n.651+33C>G
ENST00000646564.1:c.234+33C>G	ENSP00000495806.1:n.234+33C>G
ENST00000155840.9:c.1032+33C>G	ENSP00000155840.2:n.1032+33C>G
ENST00000335475.5:c.651+33C>G	ENSP00000334497.5:n.651+33C>G
NM_000218.2:c.1032+33C>G , LRG_287t1:c.1032+33C>G	NP_000209.2:n.1032+33C>G
NM_181798.1:c.651+33C>G , LRG_287t2:c.651+33C>G	NP_861463.1:n.651+33C>G
NM_000218.3:c.1032+33C>G MANE Select	NP_000209.2:n.1032+33C>G