Canonical Allele Identifier: CA2499220862

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1191949
• ClinVar RCV Id: RCV001553224
• dbSNP Id: rs1460161223
• gnomAD v4: 11-2527925-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527925C>G , CM000673.2:g.2527925C>G	GRCh38
NC_000011.9:g.2549155C>G , CM000673.1:g.2549155C>G	GRCh37
NC_000011.8:g.2505731C>G	NCBI36
NG_008935.1:g.87935C>G , LRG_287:g.87935C>G

Transcript Alleles

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