Canonical Allele Identifier: CA934460332

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848351268
• gnomAD v3: 11-2572427-G-A
• gnomAD v4: 11-2572427-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572427G>A , CM000673.2:g.2572427G>A	GRCh38
NC_000011.9:g.2593657G>A , CM000673.1:g.2593657G>A	GRCh37
NC_000011.8:g.2550233G>A	NCBI36
NG_008935.1:g.132437G>A , LRG_287:g.132437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+318G>A	ENSP00000434560.2:n.519+318G>A
ENST00000646564.2:c.478-11008G>A	ENSP00000495806.2:n.478-11008G>A
ENST00000155840.12:c.780+318G>A MANE Select	ENSP00000155840.2:n.780+318G>A
ENST00000335475.6:c.399+318G>A	ENSP00000334497.5:n.399+318G>A
ENST00000646564.1:c.124-11008G>A	ENSP00000495806.1:n.124-11008G>A
ENST00000155840.9:c.780+318G>A	ENSP00000155840.2:n.780+318G>A
ENST00000335475.5:c.399+318G>A	ENSP00000334497.5:n.399+318G>A
ENST00000496887.6:c.519+318G>A	ENSP00000434560.1:n.519+318G>A
NM_000218.2:c.780+318G>A , LRG_287t1:c.780+318G>A	NP_000209.2:n.780+318G>A
NM_181798.1:c.399+318G>A , LRG_287t2:c.399+318G>A	NP_861463.1:n.399+318G>A
NM_000218.3:c.780+318G>A MANE Select	NP_000209.2:n.780+318G>A