Canonical Allele Identifier: CA036682

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1279590
• ClinVar RCV Id: RCV001693163
• dbSNP Id: rs192393524
• ExAC: 11:2549107 T / C
• gnomAD v2: 11-2549107-T-C
• gnomAD v3: 11-2527877-T-C
• gnomAD v4: 11-2527877-T-C
• MyVariant Identifiers: chr11:g.2549107T>C (hg19) ; chr11:g.2527877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527877T>C , CM000673.2:g.2527877T>C	GRCh38
NC_000011.9:g.2549107T>C , CM000673.1:g.2549107T>C	GRCh37
NC_000011.8:g.2505683T>C	NCBI36
NG_008935.1:g.87887T>C , LRG_287:g.87887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.184-51T>C
ENST00000496887.7:c.126-51T>C	ENSP00000434560.2:n.126-51T>C
ENST00000646564.2:c.387-51T>C	ENSP00000495806.2:n.387-51T>C
ENST00000155840.12:c.387-51T>C MANE Select	ENSP00000155840.2:n.387-51T>C
ENST00000335475.6:c.6-51T>C	ENSP00000334497.5:n.6-51T>C
ENST00000646564.1:c.33-51T>C	ENSP00000495806.1:n.33-51T>C
ENST00000155840.9:c.387-51T>C	ENSP00000155840.2:n.387-51T>C
ENST00000335475.5:c.6-51T>C	ENSP00000334497.5:n.6-51T>C
ENST00000345015.4:n.256-51T>C
ENST00000380776.4:c.177-51T>C	ENSP00000370153.4:n.177-51T>C
ENST00000496887.6:c.126-51T>C	ENSP00000434560.1:n.126-51T>C
NM_000218.2:c.387-51T>C , LRG_287t1:c.387-51T>C	NP_000209.2:n.387-51T>C
NM_181798.1:c.6-51T>C , LRG_287t2:c.6-51T>C	NP_861463.1:n.6-51T>C
NM_000218.3:c.387-51T>C MANE Select	NP_000209.2:n.387-51T>C