Canonical Allele Identifier: CA379134802

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 918527
• ClinVar RCV Id: RCV001842642
• dbSNP Id: rs1490239200
• gnomAD v4: 11-2587652-C-G
• MyVariant Identifiers: chr11:g.2608882C>G (hg19) ; chr11:g.2587652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587652C>G , CM000673.2:g.2587652C>G	GRCh38
NC_000011.9:g.2608882C>G , CM000673.1:g.2608882C>G	GRCh37
NC_000011.8:g.2565458C>G	NCBI36
NG_008935.1:g.147662C>G , LRG_287:g.147662C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.854C>G	ENSP00000434560.2:p.Thr285Ser
ENST00000646564.2:c.671C>G	ENSP00000495806.2:p.Thr224Ser
ENST00000155840.12:c.1211C>G MANE Select	ENSP00000155840.2:p.Thr404Ser
ENST00000335475.6:c.830C>G	ENSP00000334497.5:p.Thr277Ser
ENST00000646564.1:c.317C>G	ENSP00000495806.1:p.Thr106Ser
ENST00000155840.9:c.1211C>G	ENSP00000155840.2:p.Thr404Ser
ENST00000335475.5:c.830C>G	ENSP00000334497.5:p.Thr277Ser
NM_000218.2:c.1211C>G , LRG_287t1:c.1211C>G	NP_000209.2:p.Thr404Ser
NM_181798.1:c.830C>G , LRG_287t2:c.830C>G	NP_861463.1:p.Thr277Ser
NM_000218.3:c.1211C>G MANE Select	NP_000209.2:p.Thr404Ser