Canonical Allele Identifier: CA597109700

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1564886361
• gnomAD v2: 11-2790085-AC-A
• gnomAD v4: 11-2768855-AC-A
• MyVariant Identifiers: chr11:g.2790086del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768857del , CM000673.2:g.2768857del	GRCh38
NC_000011.9:g.2790087del , CM000673.1:g.2790087del	GRCh37
NC_000011.8:g.2746663del	NCBI36
NG_008935.1:g.328867del , LRG_287:g.328867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1171del	ENSP00000434560.2:p.His391IlefsTer?
ENST00000646564.2:c.988del	ENSP00000495806.2:p.His330IlefsTer?
ENST00000155840.12:c.1528del MANE Select	ENSP00000155840.2:p.His510IlefsTer?
ENST00000335475.6:c.1147del	ENSP00000334497.5:p.His383IlefsTer?
ENST00000646564.1:c.634del	ENSP00000495806.1:p.His212IlefsTer?
ENST00000155840.9:c.1528del	ENSP00000155840.2:p.His510IlefsTer?
ENST00000335475.5:c.1147del	ENSP00000334497.5:p.His383IlefsTer?
NM_000218.2:c.1528del , LRG_287t1:c.1528del	NP_000209.2:p.His510IlefsTer?
NM_181798.1:c.1147del , LRG_287t2:c.1147del	NP_861463.1:p.His383IlefsTer?
NM_000218.3:c.1528del MANE Select	NP_000209.2:p.His510IlefsTer?