Canonical Allele Identifier: CA1948228433

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848572564
• gnomAD v4: 11-2585060-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585060A>G , CM000673.2:g.2585060A>G	GRCh38
NC_000011.9:g.2606290A>G , CM000673.1:g.2606290A>G	GRCh37
NC_000011.8:g.2562866A>G	NCBI36
NG_008935.1:g.145070A>G , LRG_287:g.145070A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1515A>G	ENSP00000434560.2:n.771+1515A>G
ENST00000646564.2:c.588+1515A>G	ENSP00000495806.2:n.588+1515A>G
ENST00000155840.12:c.1033-152A>G MANE Select	ENSP00000155840.2:n.1033-152A>G
ENST00000335475.6:c.652-152A>G	ENSP00000334497.5:n.652-152A>G
ENST00000646564.1:c.234+1515A>G	ENSP00000495806.1:n.234+1515A>G
ENST00000155840.9:c.1033-152A>G	ENSP00000155840.2:n.1033-152A>G
ENST00000335475.5:c.652-152A>G	ENSP00000334497.5:n.652-152A>G
NM_000218.2:c.1033-152A>G , LRG_287t1:c.1033-152A>G	NP_000209.2:n.1033-152A>G
NM_181798.1:c.652-152A>G , LRG_287t2:c.652-152A>G	NP_861463.1:n.652-152A>G
NM_000218.3:c.1033-152A>G MANE Select	NP_000209.2:n.1033-152A>G