Canonical Allele Identifier: CA216312379

Gene: KCNQ1

Linked Data

• dbSNP Id: rs958882426
• gnomAD v3: 11-2572737-GCGGCGTAGGA-G
• gnomAD v4: 11-2572737-GCGGCGTAGGA-G
• MyVariant Identifiers: chr11:g.2593968_2593977del (hg19) ; chr11:g.2572738_2572747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572740_2572749del , CM000673.2:g.2572740_2572749del	GRCh38
NC_000011.9:g.2593970_2593979del , CM000673.1:g.2593970_2593979del	GRCh37
NC_000011.8:g.2550546_2550555del	NCBI36
NG_008935.1:g.132750_132759del , LRG_287:g.132750_132759del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-106_520-97del	ENSP00000434560.2:n.520-106_520-97del
ENST00000646564.2:c.478-10695_478-10686del	ENSP00000495806.2:n.478-10695_478-10686de...
ENST00000155840.12:c.781-106_781-97del MANE Select	ENSP00000155840.2:n.781-106_781-97del
ENST00000335475.6:c.400-106_400-97del	ENSP00000334497.5:n.400-106_400-97del
ENST00000646564.1:c.124-10695_124-10686del	ENSP00000495806.1:n.124-10695_124-10686de...
ENST00000155840.9:c.781-106_781-97del	ENSP00000155840.2:n.781-106_781-97del
ENST00000335475.5:c.400-106_400-97del	ENSP00000334497.5:n.400-106_400-97del
ENST00000496887.6:c.520-106_520-97del	ENSP00000434560.1:n.520-106_520-97del
NM_000218.2:c.781-106_781-97del , LRG_287t1:c.781-106_781-97del	NP_000209.2:n.781-106_781-97del
NM_181798.1:c.400-106_400-97del , LRG_287t2:c.400-106_400-97del	NP_861463.1:n.400-106_400-97del
NM_000218.3:c.781-106_781-97del MANE Select	NP_000209.2:n.781-106_781-97del