Canonical Allele Identifier: CA379134687

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1677905
• ClinVar RCV Id: RCV002223586
• dbSNP Id: rs199473473
• gnomAD v4: 11-2587594-G-C
• MyVariant Identifiers: chr11:g.2608824G>C (hg19) ; chr11:g.2587594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587594G>C , CM000673.2:g.2587594G>C	GRCh38
NC_000011.9:g.2608824G>C , CM000673.1:g.2608824G>C	GRCh37
NC_000011.8:g.2565400G>C	NCBI36
NG_008935.1:g.147604G>C , LRG_287:g.147604G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.796G>C	ENSP00000434560.2:p.Glu266Gln
ENST00000646564.2:c.613G>C	ENSP00000495806.2:p.Glu205Gln
ENST00000155840.12:c.1153G>C MANE Select	ENSP00000155840.2:p.Glu385Gln
ENST00000335475.6:c.772G>C	ENSP00000334497.5:p.Glu258Gln
ENST00000646564.1:c.259G>C	ENSP00000495806.1:p.Glu87Gln
ENST00000155840.9:c.1153G>C	ENSP00000155840.2:p.Glu385Gln
ENST00000335475.5:c.772G>C	ENSP00000334497.5:p.Glu258Gln
NM_000218.2:c.1153G>C , LRG_287t1:c.1153G>C	NP_000209.2:p.Glu385Gln
NM_181798.1:c.772G>C , LRG_287t2:c.772G>C	NP_861463.1:p.Glu258Gln
NM_000218.3:c.1153G>C MANE Select	NP_000209.2:p.Glu385Gln