Canonical Allele Identifier: CA1948224437

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1589965158
• gnomAD v4: 11-2583369-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583369T>G , CM000673.2:g.2583369T>G	GRCh38
NC_000011.9:g.2604599T>G , CM000673.1:g.2604599T>G	GRCh37
NC_000011.8:g.2561175T>G	NCBI36
NG_008935.1:g.143379T>G , LRG_287:g.143379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-66T>G	ENSP00000434560.2:n.661-66T>G
ENST00000646564.2:c.478-66T>G	ENSP00000495806.2:n.478-66T>G
ENST00000155840.12:c.922-66T>G MANE Select	ENSP00000155840.2:n.922-66T>G
ENST00000335475.6:c.541-66T>G	ENSP00000334497.5:n.541-66T>G
ENST00000646564.1:c.124-66T>G	ENSP00000495806.1:n.124-66T>G
ENST00000155840.9:c.922-66T>G	ENSP00000155840.2:n.922-66T>G
ENST00000335475.5:c.541-66T>G	ENSP00000334497.5:n.541-66T>G
NM_000218.2:c.922-66T>G , LRG_287t1:c.922-66T>G	NP_000209.2:n.922-66T>G
NM_181798.1:c.541-66T>G , LRG_287t2:c.541-66T>G	NP_861463.1:n.541-66T>G
NM_000218.3:c.922-66T>G MANE Select	NP_000209.2:n.922-66T>G