Canonical Allele Identifier: CA597109313

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1422822800
• gnomAD v2: 11-2592928-C-G
• gnomAD v3: 11-2571698-C-G
• gnomAD v4: 11-2571698-C-G
• MyVariant Identifiers: chr11:g.2592928C>G (hg19) ; chr11:g.2571698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571698C>G , CM000673.2:g.2571698C>G	GRCh38
NC_000011.9:g.2592928C>G , CM000673.1:g.2592928C>G	GRCh37
NC_000011.8:g.2549504C>G	NCBI36
NG_008935.1:g.131708C>G , LRG_287:g.131708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+295C>G	ENSP00000434560.2:n.422+295C>G
ENST00000646564.2:c.478-11737C>G	ENSP00000495806.2:n.478-11737C>G
ENST00000155840.12:c.683+295C>G MANE Select	ENSP00000155840.2:n.683+295C>G
ENST00000335475.6:c.302+295C>G	ENSP00000334497.5:n.302+295C>G
ENST00000646564.1:c.124-11737C>G	ENSP00000495806.1:n.124-11737C>G
ENST00000155840.9:c.683+295C>G	ENSP00000155840.2:n.683+295C>G
ENST00000335475.5:c.302+295C>G	ENSP00000334497.5:n.302+295C>G
ENST00000496887.6:c.422+295C>G	ENSP00000434560.1:n.422+295C>G
NM_000218.2:c.683+295C>G , LRG_287t1:c.683+295C>G	NP_000209.2:n.683+295C>G
NM_181798.1:c.302+295C>G , LRG_287t2:c.302+295C>G	NP_861463.1:n.302+295C>G
NM_000218.3:c.683+295C>G MANE Select	NP_000209.2:n.683+295C>G