Canonical Allele Identifier: CA2612002495

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583387-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583387C>G , CM000673.2:g.2583387C>G	GRCh38
NC_000011.9:g.2604617C>G , CM000673.1:g.2604617C>G	GRCh37
NC_000011.8:g.2561193C>G	NCBI36
NG_008935.1:g.143397C>G , LRG_287:g.143397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-48C>G	ENSP00000434560.2:n.661-48C>G
ENST00000646564.2:c.478-48C>G	ENSP00000495806.2:n.478-48C>G
ENST00000155840.12:c.922-48C>G MANE Select	ENSP00000155840.2:n.922-48C>G
ENST00000335475.6:c.541-48C>G	ENSP00000334497.5:n.541-48C>G
ENST00000646564.1:c.124-48C>G	ENSP00000495806.1:n.124-48C>G
ENST00000155840.9:c.922-48C>G	ENSP00000155840.2:n.922-48C>G
ENST00000335475.5:c.541-48C>G	ENSP00000334497.5:n.541-48C>G
NM_000218.2:c.922-48C>G , LRG_287t1:c.922-48C>G	NP_000209.2:n.922-48C>G
NM_181798.1:c.541-48C>G , LRG_287t2:c.541-48C>G	NP_861463.1:n.541-48C>G
NM_000218.3:c.922-48C>G MANE Select	NP_000209.2:n.922-48C>G