Canonical Allele Identifier: CA028996

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 628913
• ClinVar RCV Id: RCV001841903 ; RCV002386340 ; RCV002487582 ; RCV003532256
• dbSNP Id: rs200418488
• ExAC: 11:2610068 C / T
• gnomAD v2: 11-2610068-C-T
• gnomAD v3: 11-2588838-C-T
• gnomAD v4: 11-2588838-C-T
• MyVariant Identifiers: chr11:g.2610068C>T (hg19) ; chr11:g.2588838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588838C>T , CM000673.2:g.2588838C>T	GRCh38
NC_000011.9:g.2610068C>T , CM000673.1:g.2610068C>T	GRCh37
NC_000011.8:g.2566644C>T	NCBI36
NG_008935.1:g.148848C>T , LRG_287:g.148848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1020C>T	ENSP00000434560.2:p.Asp340=
ENST00000646564.2:c.837C>T	ENSP00000495806.2:p.Asp279=
ENST00000155840.12:c.1377C>T MANE Select	ENSP00000155840.2:p.Asp459=
ENST00000335475.6:c.996C>T	ENSP00000334497.5:p.Asp332=
ENST00000646564.1:c.483C>T	ENSP00000495806.1:p.Asp161=
ENST00000155840.9:c.1377C>T	ENSP00000155840.2:p.Asp459=
ENST00000335475.5:c.996C>T	ENSP00000334497.5:p.Asp332=
NM_000218.2:c.1377C>T , LRG_287t1:c.1377C>T	NP_000209.2:p.Asp459=
NM_181798.1:c.996C>T , LRG_287t2:c.996C>T	NP_861463.1:p.Asp332=
NM_000218.3:c.1377C>T MANE Select	NP_000209.2:p.Asp459=