Canonical Allele Identifier: CA379132976

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604681T>G (hg19) ; chr11:g.2583451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583451T>G , CM000673.2:g.2583451T>G	GRCh38
NC_000011.9:g.2604681T>G , CM000673.1:g.2604681T>G	GRCh37
NC_000011.8:g.2561257T>G	NCBI36
NG_008935.1:g.143461T>G , LRG_287:g.143461T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.677T>G	ENSP00000434560.2:p.Ile226Ser
ENST00000646564.2:c.494T>G	ENSP00000495806.2:p.Ile165Ser
ENST00000155840.12:c.938T>G MANE Select	ENSP00000155840.2:p.Ile313Ser
ENST00000335475.6:c.557T>G	ENSP00000334497.5:p.Ile186Ser
ENST00000646564.1:c.140T>G	ENSP00000495806.1:p.Ile47Ser
ENST00000155840.9:c.938T>G	ENSP00000155840.2:p.Ile313Ser
ENST00000335475.5:c.557T>G	ENSP00000334497.5:p.Ile186Ser
NM_000218.2:c.938T>G , LRG_287t1:c.938T>G	NP_000209.2:p.Ile313Ser
NM_181798.1:c.557T>G , LRG_287t2:c.557T>G	NP_861463.1:p.Ile186Ser
NM_000218.3:c.938T>G MANE Select	NP_000209.2:p.Ile313Ser