Canonical Allele Identifier: CA216311412

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1053824025
• gnomAD v4: 11-2571946-C-G
• MyVariant Identifiers: chr11:g.2593176C>G (hg19) ; chr11:g.2571946C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571946C>G , CM000673.2:g.2571946C>G	GRCh38
NC_000011.9:g.2593176C>G , CM000673.1:g.2593176C>G	GRCh37
NC_000011.8:g.2549752C>G	NCBI36
NG_008935.1:g.131956C>G , LRG_287:g.131956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-67C>G	ENSP00000434560.2:n.423-67C>G
ENST00000646564.2:c.478-11489C>G	ENSP00000495806.2:n.478-11489C>G
ENST00000155840.12:c.684-67C>G MANE Select	ENSP00000155840.2:n.684-67C>G
ENST00000335475.6:c.303-67C>G	ENSP00000334497.5:n.303-67C>G
ENST00000646564.1:c.124-11489C>G	ENSP00000495806.1:n.124-11489C>G
ENST00000155840.9:c.684-67C>G	ENSP00000155840.2:n.684-67C>G
ENST00000335475.5:c.303-67C>G	ENSP00000334497.5:n.303-67C>G
ENST00000496887.6:c.423-67C>G	ENSP00000434560.1:n.423-67C>G
NM_000218.2:c.684-67C>G , LRG_287t1:c.684-67C>G	NP_000209.2:n.684-67C>G
NM_181798.1:c.303-67C>G , LRG_287t2:c.303-67C>G	NP_861463.1:n.303-67C>G
NM_000218.3:c.684-67C>G MANE Select	NP_000209.2:n.684-67C>G