Canonical Allele Identifier: CA379129845

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570655-A-G
• MyVariant Identifiers: chr11:g.2591885A>G (hg19) ; chr11:g.2570655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570655A>G , CM000673.2:g.2570655A>G	GRCh38
NC_000011.9:g.2591885A>G , CM000673.1:g.2591885A>G	GRCh37
NC_000011.8:g.2548461A>G	NCBI36
NG_008935.1:g.130665A>G , LRG_287:g.130665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.244A>G	ENSP00000434560.2:p.Thr82Ala
ENST00000646564.2:c.478-12780A>G	ENSP00000495806.2:n.478-12780A>G
ENST00000155840.12:c.505A>G MANE Select	ENSP00000155840.2:p.Thr169Ala
ENST00000335475.6:c.124A>G	ENSP00000334497.5:p.Thr42Ala
ENST00000646564.1:c.124-12780A>G	ENSP00000495806.1:n.124-12780A>G
ENST00000155840.9:c.505A>G	ENSP00000155840.2:p.Thr169Ala
ENST00000335475.5:c.124A>G	ENSP00000334497.5:p.Thr42Ala
ENST00000496887.6:c.244A>G	ENSP00000434560.1:p.Thr82Ala
NM_000218.2:c.505A>G , LRG_287t1:c.505A>G	NP_000209.2:p.Thr169Ala
NM_181798.1:c.124A>G , LRG_287t2:c.124A>G	NP_861463.1:p.Thr42Ala
NM_000218.3:c.505A>G MANE Select	NP_000209.2:p.Thr169Ala