Canonical Allele Identifier: CA934460542

Gene: KCNQ1

Linked Data

• dbSNP Id: rs543850965
• gnomAD v3: 11-2572750-C-A
• gnomAD v4: 11-2572750-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572750C>A , CM000673.2:g.2572750C>A	GRCh38
NC_000011.9:g.2593980C>A , CM000673.1:g.2593980C>A	GRCh37
NC_000011.8:g.2550556C>A	NCBI36
NG_008935.1:g.132760C>A , LRG_287:g.132760C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-96C>A	ENSP00000434560.2:n.520-96C>A
ENST00000646564.2:c.478-10685C>A	ENSP00000495806.2:n.478-10685C>A
ENST00000155840.12:c.781-96C>A MANE Select	ENSP00000155840.2:n.781-96C>A
ENST00000335475.6:c.400-96C>A	ENSP00000334497.5:n.400-96C>A
ENST00000646564.1:c.124-10685C>A	ENSP00000495806.1:n.124-10685C>A
ENST00000155840.9:c.781-96C>A	ENSP00000155840.2:n.781-96C>A
ENST00000335475.5:c.400-96C>A	ENSP00000334497.5:n.400-96C>A
ENST00000496887.6:c.520-96C>A	ENSP00000434560.1:n.520-96C>A
NM_000218.2:c.781-96C>A , LRG_287t1:c.781-96C>A	NP_000209.2:n.781-96C>A
NM_181798.1:c.400-96C>A , LRG_287t2:c.400-96C>A	NP_861463.1:n.400-96C>A
NM_000218.3:c.781-96C>A MANE Select	NP_000209.2:n.781-96C>A