Canonical Allele Identifier: CA216327043
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1037534546
gnomAD v3: 11-2583401-C-G
gnomAD v4: 11-2583401-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583401C>G , CM000673.2:g.2583401C>G GRCh38
NC_000011.9:g.2604631C>G , CM000673.1:g.2604631C>G GRCh37
NC_000011.8:g.2561207C>G NCBI36
NG_008935.1:g.143411C>G , LRG_287:g.143411C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-34C>G ENSP00000434560.2:n.661-34C>G
ENST00000646564.2:c.478-34C>G ENSP00000495806.2:n.478-34C>G
ENST00000155840.12:c.922-34C>G MANE Select ENSP00000155840.2:n.922-34C>G
ENST00000335475.6:c.541-34C>G ENSP00000334497.5:n.541-34C>G
ENST00000646564.1:c.124-34C>G ENSP00000495806.1:n.124-34C>G
ENST00000155840.9:c.922-34C>G ENSP00000155840.2:n.922-34C>G
ENST00000335475.5:c.541-34C>G ENSP00000334497.5:n.541-34C>G
NM_000218.2:c.922-34C>G , LRG_287t1:c.922-34C>G NP_000209.2:n.922-34C>G
NM_181798.1:c.541-34C>G , LRG_287t2:c.541-34C>G NP_861463.1:n.541-34C>G
NM_000218.3:c.922-34C>G MANE Select NP_000209.2:n.922-34C>G