Canonical Allele Identifier: CA597109297

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1483737247
• gnomAD v2: 11-2592885-C-A
• gnomAD v3: 11-2571655-C-A
• gnomAD v4: 11-2571655-C-A
• MyVariant Identifiers: chr11:g.2592885C>A (hg19) ; chr11:g.2571655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571655C>A , CM000673.2:g.2571655C>A	GRCh38
NC_000011.9:g.2592885C>A , CM000673.1:g.2592885C>A	GRCh37
NC_000011.8:g.2549461C>A	NCBI36
NG_008935.1:g.131665C>A , LRG_287:g.131665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+252C>A	ENSP00000434560.2:n.422+252C>A
ENST00000646564.2:c.478-11780C>A	ENSP00000495806.2:n.478-11780C>A
ENST00000155840.12:c.683+252C>A MANE Select	ENSP00000155840.2:n.683+252C>A
ENST00000335475.6:c.302+252C>A	ENSP00000334497.5:n.302+252C>A
ENST00000646564.1:c.124-11780C>A	ENSP00000495806.1:n.124-11780C>A
ENST00000155840.9:c.683+252C>A	ENSP00000155840.2:n.683+252C>A
ENST00000335475.5:c.302+252C>A	ENSP00000334497.5:n.302+252C>A
ENST00000496887.6:c.422+252C>A	ENSP00000434560.1:n.422+252C>A
NM_000218.2:c.683+252C>A , LRG_287t1:c.683+252C>A	NP_000209.2:n.683+252C>A
NM_181798.1:c.302+252C>A , LRG_287t2:c.302+252C>A	NP_861463.1:n.302+252C>A
NM_000218.3:c.683+252C>A MANE Select	NP_000209.2:n.683+252C>A