Canonical Allele Identifier: CA918805582

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1564824398
• gnomAD v4: 11-2583615-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583616del , CM000673.2:g.2583616del	GRCh38
NC_000011.9:g.2604846del , CM000673.1:g.2604846del	GRCh37
NC_000011.8:g.2561422del	NCBI36
NG_008935.1:g.143626del , LRG_287:g.143626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+71del	ENSP00000434560.2:n.771+71del
ENST00000646564.2:c.588+71del	ENSP00000495806.2:n.588+71del
ENST00000155840.12:c.1032+71del MANE Select	ENSP00000155840.2:n.1032+71del
ENST00000335475.6:c.651+71del	ENSP00000334497.5:n.651+71del
ENST00000646564.1:c.234+71del	ENSP00000495806.1:n.234+71del
ENST00000155840.9:c.1032+71del	ENSP00000155840.2:n.1032+71del
ENST00000335475.5:c.651+71del	ENSP00000334497.5:n.651+71del
NM_000218.2:c.1032+71del , LRG_287t1:c.1032+71del	NP_000209.2:n.1032+71del
NM_181798.1:c.651+71del , LRG_287t2:c.651+71del	NP_861463.1:n.651+71del
NM_000218.3:c.1032+71del MANE Select	NP_000209.2:n.1032+71del