Canonical Allele Identifier: CA379121197

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2527937-C-G
• MyVariant Identifiers: chr11:g.2549167C>G (hg19) ; chr11:g.2527937C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527937C>G , CM000673.2:g.2527937C>G	GRCh38
NC_000011.9:g.2549167C>G , CM000673.1:g.2549167C>G	GRCh37
NC_000011.8:g.2505743C>G	NCBI36
NG_008935.1:g.87947C>G , LRG_287:g.87947C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.193C>G
ENST00000496887.7:c.135C>G	ENSP00000434560.2:p.Ile45Met
ENST00000646564.2:c.396C>G	ENSP00000495806.2:p.Ile132Met
ENST00000155840.12:c.396C>G MANE Select	ENSP00000155840.2:p.Ile132Met
ENST00000335475.6:c.15C>G	ENSP00000334497.5:p.Ile5Met
ENST00000646564.1:c.42C>G	ENSP00000495806.1:p.Ile14Met
ENST00000155840.9:c.396C>G	ENSP00000155840.2:p.Ile132Met
ENST00000335475.5:c.15C>G	ENSP00000334497.5:p.Ile5Met
ENST00000345015.4:n.265C>G
ENST00000380776.4:c.186C>G	ENSP00000370153.4:p.Ile62Met
ENST00000496887.6:c.135C>G	ENSP00000434560.1:p.Ile45Met
NM_000218.2:c.396C>G , LRG_287t1:c.396C>G	NP_000209.2:p.Ile132Met
NM_181798.1:c.15C>G , LRG_287t2:c.15C>G	NP_861463.1:p.Ile5Met
NM_000218.3:c.396C>G MANE Select	NP_000209.2:p.Ile132Met