Canonical Allele Identifier: CA008201

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 163739
• ClinVar RCV Id: RCV001842462 ; RCV002055974
• dbSNP Id: rs727503103
• ExAC: 11:2594056 CTG / C
• gnomAD v2: 11-2594056-CTG-C
• gnomAD v3: 11-2572826-CTG-C
• gnomAD v4: 11-2572826-CTG-C
• MyVariant Identifiers: chr11:g.2594062_2594063del (hg19) ; chr11:g.2594057_2594058del (hg19) ; chr11:g.2572832_2572833del (hg38) ; chr11:g.2572827_2572828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572832_2572833del , CM000673.2:g.2572832_2572833del	GRCh38
NC_000011.9:g.2594062_2594063del , CM000673.1:g.2594062_2594063del	GRCh37
NC_000011.8:g.2550638_2550639del	NCBI36
NG_008935.1:g.132842_132843del , LRG_287:g.132842_132843del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-14_520-13del	ENSP00000434560.2:n.520-14_520-13del
ENST00000646564.2:c.478-10603_478-10602del	ENSP00000495806.2:n.478-10603_478-10602de...
ENST00000155840.12:c.781-14_781-13del MANE Select	ENSP00000155840.2:n.781-14_781-13del
ENST00000335475.6:c.400-14_400-13del	ENSP00000334497.5:n.400-14_400-13del
ENST00000646564.1:c.124-10603_124-10602del	ENSP00000495806.1:n.124-10603_124-10602de...
ENST00000155840.9:c.781-14_781-13del	ENSP00000155840.2:n.781-14_781-13del
ENST00000335475.5:c.400-14_400-13del	ENSP00000334497.5:n.400-14_400-13del
ENST00000496887.6:c.520-14_520-13del	ENSP00000434560.1:n.520-14_520-13del
NM_000218.2:c.781-14_781-13del , LRG_287t1:c.781-14_781-13del	NP_000209.2:n.781-14_781-13del
NM_181798.1:c.400-14_400-13del , LRG_287t2:c.400-14_400-13del	NP_861463.1:n.400-14_400-13del
NM_000218.3:c.781-14_781-13del MANE Select	NP_000209.2:n.781-14_781-13del