Canonical Allele Identifier: CA2612008463

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2768768-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768768A>G , CM000673.2:g.2768768A>G	GRCh38
NC_000011.9:g.2789998A>G , CM000673.1:g.2789998A>G	GRCh37
NC_000011.8:g.2746574A>G	NCBI36
NG_008935.1:g.328778A>G , LRG_287:g.328778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-76A>G	ENSP00000434560.2:n.1158-76A>G
ENST00000646564.2:c.975-76A>G	ENSP00000495806.2:n.975-76A>G
ENST00000155840.12:c.1515-76A>G MANE Select	ENSP00000155840.2:n.1515-76A>G
ENST00000335475.6:c.1134-76A>G	ENSP00000334497.5:n.1134-76A>G
ENST00000646564.1:c.621-76A>G	ENSP00000495806.1:n.621-76A>G
ENST00000155840.9:c.1515-76A>G	ENSP00000155840.2:n.1515-76A>G
ENST00000335475.5:c.1134-76A>G	ENSP00000334497.5:n.1134-76A>G
NM_000218.2:c.1515-76A>G , LRG_287t1:c.1515-76A>G	NP_000209.2:n.1515-76A>G
NM_181798.1:c.1134-76A>G , LRG_287t2:c.1134-76A>G	NP_861463.1:n.1134-76A>G
NM_000218.3:c.1515-76A>G MANE Select	NP_000209.2:n.1515-76A>G