Canonical Allele Identifier: CA032751

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405264
• ClinVar RCV Id: RCV000477059
• dbSNP Id: rs765169367
• ExAC: 11:2799255 AG / A
• gnomAD v2: 11-2799255-AG-A
• MyVariant Identifiers: chr11:g.2799256del (hg19) ; chr11:g.2778026del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778026del , CM000673.2:g.2778026del	GRCh38
NC_000011.9:g.2799256del , CM000673.1:g.2799256del	GRCh37
NC_000011.8:g.2755832del	NCBI36
NG_008935.1:g.338036del , LRG_287:g.338036del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1426del	ENSP00000434560.2:p.Val476Ter
ENST00000646564.2:c.1243del	ENSP00000495806.2:p.Val415Ter
ENST00000155840.12:c.1783del MANE Select	ENSP00000155840.2:p.Val595Ter
ENST00000335475.6:c.1402del	ENSP00000334497.5:p.Val468Ter
ENST00000526095.2:c.187del	ENSP00000494939.1:p.Val63Ter
ENST00000646564.1:c.889del	ENSP00000495806.1:p.Val297Ter
ENST00000155840.9:c.1783del	ENSP00000155840.2:p.Val595Ter
ENST00000335475.5:c.1402del	ENSP00000334497.5:p.Val468Ter
ENST00000526095.1:n.290del
NM_000218.2:c.1783del , LRG_287t1:c.1783del	NP_000209.2:p.Val595Ter
NM_181798.1:c.1402del , LRG_287t2:c.1402del	NP_861463.1:p.Val468Ter
NM_000218.3:c.1783del MANE Select	NP_000209.2:p.Val595Ter