Canonical Allele Identifier: CA16042741

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 372568
• ClinVar RCV Id: RCV000412764
• dbSNP Id: rs387906290
• MyVariant Identifiers: chr11:g.2604664G>A (hg19) ; chr11:g.2583434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583434G>A , CM000673.2:g.2583434G>A	GRCh38
NC_000011.9:g.2604664G>A , CM000673.1:g.2604664G>A	GRCh37
NC_000011.8:g.2561240G>A	NCBI36
NG_008935.1:g.143444G>A , LRG_287:g.143444G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-1G>A	ENSP00000434560.2:n.661-1G>A
ENST00000646564.2:c.478-1G>A	ENSP00000495806.2:n.478-1G>A
ENST00000155840.12:c.922-1G>A MANE Select	ENSP00000155840.2:n.922-1G>A
ENST00000335475.6:c.541-1G>A	ENSP00000334497.5:n.541-1G>A
ENST00000646564.1:c.124-1G>A	ENSP00000495806.1:n.124-1G>A
ENST00000155840.9:c.922-1G>A	ENSP00000155840.2:n.922-1G>A
ENST00000335475.5:c.541-1G>A	ENSP00000334497.5:n.541-1G>A
NM_000218.2:c.922-1G>A , LRG_287t1:c.922-1G>A	NP_000209.2:n.922-1G>A
NM_181798.1:c.541-1G>A , LRG_287t2:c.541-1G>A	NP_861463.1:n.541-1G>A
NM_000218.3:c.922-1G>A MANE Select	NP_000209.2:n.922-1G>A