Canonical Allele Identifier: CA597432468

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199621723
• gnomAD v2: 11-2594037-C-A
• gnomAD v4: 11-2572807-C-A
• MyVariant Identifiers: chr11:g.2594037C>A (hg19) ; chr11:g.2572807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572807C>A , CM000673.2:g.2572807C>A	GRCh38
NC_000011.9:g.2594037C>A , CM000673.1:g.2594037C>A	GRCh37
NC_000011.8:g.2550613C>A	NCBI36
NG_008935.1:g.132817C>A , LRG_287:g.132817C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-39C>A	ENSP00000434560.2:n.520-39C>A
ENST00000646564.2:c.478-10628C>A	ENSP00000495806.2:n.478-10628C>A
ENST00000155840.12:c.781-39C>A MANE Select	ENSP00000155840.2:n.781-39C>A
ENST00000335475.6:c.400-39C>A	ENSP00000334497.5:n.400-39C>A
ENST00000646564.1:c.124-10628C>A	ENSP00000495806.1:n.124-10628C>A
ENST00000155840.9:c.781-39C>A	ENSP00000155840.2:n.781-39C>A
ENST00000335475.5:c.400-39C>A	ENSP00000334497.5:n.400-39C>A
ENST00000496887.6:c.520-39C>A	ENSP00000434560.1:n.520-39C>A
NM_000218.2:c.781-39C>A , LRG_287t1:c.781-39C>A	NP_000209.2:n.781-39C>A
NM_181798.1:c.400-39C>A , LRG_287t2:c.400-39C>A	NP_861463.1:n.400-39C>A
NM_000218.3:c.781-39C>A MANE Select	NP_000209.2:n.781-39C>A