Canonical Allele Identifier: CA379139279

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 940743
• ClinVar RCV Id: RCV001210392
• dbSNP Id: rs1846716972
• MyVariant Identifiers: chr11:g.2798224A>C (hg19) ; chr11:g.2776994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776994A>C , CM000673.2:g.2776994A>C	GRCh38
NC_000011.9:g.2798224A>C , CM000673.1:g.2798224A>C	GRCh37
NC_000011.8:g.2754800A>C	NCBI36
NG_008935.1:g.337004A>C , LRG_287:g.337004A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1337A>C	ENSP00000434560.2:p.Gln446Pro
ENST00000646564.2:c.1154A>C	ENSP00000495806.2:p.Gln385Pro
ENST00000155840.12:c.1694A>C MANE Select	ENSP00000155840.2:p.Gln565Pro
ENST00000335475.6:c.1313A>C	ENSP00000334497.5:p.Gln438Pro
ENST00000646564.1:c.800A>C	ENSP00000495806.1:p.Gln267Pro
ENST00000155840.9:c.1694A>C	ENSP00000155840.2:p.Gln565Pro
ENST00000335475.5:c.1313A>C	ENSP00000334497.5:p.Gln438Pro
NM_000218.2:c.1694A>C , LRG_287t1:c.1694A>C	NP_000209.2:p.Gln565Pro
NM_181798.1:c.1313A>C , LRG_287t2:c.1313A>C	NP_861463.1:p.Gln438Pro
NM_000218.3:c.1694A>C MANE Select	NP_000209.2:p.Gln565Pro