Canonical Allele Identifier: CA216311175

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1193966
• ClinVar RCV Id: RCV001556541
• dbSNP Id: rs558054344
• gnomAD v2: 11-2592908-TG-T
• gnomAD v3: 11-2571678-TG-T
• gnomAD v4: 11-2571678-TG-T
• MyVariant Identifiers: chr11:g.2592909del (hg19) ; chr11:g.2571679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571679del , CM000673.2:g.2571679del	GRCh38
NC_000011.9:g.2592909del , CM000673.1:g.2592909del	GRCh37
NC_000011.8:g.2549485del	NCBI36
NG_008935.1:g.131689del , LRG_287:g.131689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+276del	ENSP00000434560.2:n.422+276del
ENST00000646564.2:c.478-11756del	ENSP00000495806.2:n.478-11756del
ENST00000155840.12:c.683+276del MANE Select	ENSP00000155840.2:n.683+276del
ENST00000335475.6:c.302+276del	ENSP00000334497.5:n.302+276del
ENST00000646564.1:c.124-11756del	ENSP00000495806.1:n.124-11756del
ENST00000155840.9:c.683+276del	ENSP00000155840.2:n.683+276del
ENST00000335475.5:c.302+276del	ENSP00000334497.5:n.302+276del
ENST00000496887.6:c.422+276del	ENSP00000434560.1:n.422+276del
NM_000218.2:c.683+276del , LRG_287t1:c.683+276del	NP_000209.2:n.683+276del
NM_181798.1:c.302+276del , LRG_287t2:c.302+276del	NP_861463.1:n.302+276del
NM_000218.3:c.683+276del MANE Select	NP_000209.2:n.683+276del