Canonical Allele Identifier: CA472038428

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1547102
• ClinVar RCV Id: RCV002173283
• dbSNP Id: rs1848536339
• gnomAD v3: 11-2583494-C-T
• gnomAD v4: 11-2583494-C-T
• MyVariant Identifiers: chr11:g.2604724C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583494C>T , CM000673.2:g.2583494C>T	GRCh38
NC_000011.9:g.2604724C>T , CM000673.1:g.2604724C>T	GRCh37
NC_000011.8:g.2561300C>T	NCBI36
NG_008935.1:g.143504C>T , LRG_287:g.143504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.720C>T	ENSP00000434560.2:p.Thr240=
ENST00000646564.2:c.537C>T	ENSP00000495806.2:p.Thr179=
ENST00000155840.12:c.981C>T MANE Select	ENSP00000155840.2:p.Thr327=
ENST00000335475.6:c.600C>T	ENSP00000334497.5:p.Thr200=
ENST00000646564.1:c.183C>T	ENSP00000495806.1:p.Thr61=
ENST00000155840.9:c.981C>T	ENSP00000155840.2:p.Thr327=
ENST00000335475.5:c.600C>T	ENSP00000334497.5:p.Thr200=
NM_000218.2:c.981C>T , LRG_287t1:c.981C>T	NP_000209.2:p.Thr327=
NM_181798.1:c.600C>T , LRG_287t2:c.600C>T	NP_861463.1:p.Thr200=
NM_000218.3:c.981C>T MANE Select	NP_000209.2:p.Thr327=