Canonical Allele Identifier: CA216327748

Gene: KCNQ1

Linked Data

• dbSNP Id: rs974345044
• gnomAD v3: 11-2583755-CA-C
• gnomAD v4: 11-2583755-CA-C
• MyVariant Identifiers: chr11:g.2604986del (hg19) ; chr11:g.2583756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583756del , CM000673.2:g.2583756del	GRCh38
NC_000011.9:g.2604986del , CM000673.1:g.2604986del	GRCh37
NC_000011.8:g.2561562del	NCBI36
NG_008935.1:g.143766del , LRG_287:g.143766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+211del	ENSP00000434560.2:n.771+211del
ENST00000646564.2:c.588+211del	ENSP00000495806.2:n.588+211del
ENST00000155840.12:c.1032+211del MANE Select	ENSP00000155840.2:n.1032+211del
ENST00000335475.6:c.651+211del	ENSP00000334497.5:n.651+211del
ENST00000646564.1:c.234+211del	ENSP00000495806.1:n.234+211del
ENST00000155840.9:c.1032+211del	ENSP00000155840.2:n.1032+211del
ENST00000335475.5:c.651+211del	ENSP00000334497.5:n.651+211del
NM_000218.2:c.1032+211del , LRG_287t1:c.1032+211del	NP_000209.2:n.1032+211del
NM_181798.1:c.651+211del , LRG_287t2:c.651+211del	NP_861463.1:n.651+211del
NM_000218.3:c.1032+211del MANE Select	NP_000209.2:n.1032+211del