Canonical Allele Identifier: CA379121451

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549204A>T (hg19) ; chr11:g.2527974A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527974A>T , CM000673.2:g.2527974A>T	GRCh38
NC_000011.9:g.2549204A>T , CM000673.1:g.2549204A>T	GRCh37
NC_000011.8:g.2505780A>T	NCBI36
NG_008935.1:g.87984A>T , LRG_287:g.87984A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.172A>T	ENSP00000434560.2:p.Ile58Phe
ENST00000646564.2:c.433A>T	ENSP00000495806.2:p.Ile145Phe
ENST00000155840.12:c.433A>T MANE Select	ENSP00000155840.2:p.Ile145Phe
ENST00000335475.6:c.52A>T	ENSP00000334497.5:p.Ile18Phe
ENST00000646564.1:c.79A>T	ENSP00000495806.1:p.Ile27Phe
ENST00000155840.9:c.433A>T	ENSP00000155840.2:p.Ile145Phe
ENST00000335475.5:c.52A>T	ENSP00000334497.5:p.Ile18Phe
ENST00000345015.4:n.302A>T
ENST00000496887.6:c.172A>T	ENSP00000434560.1:p.Ile58Phe
NM_000218.2:c.433A>T , LRG_287t1:c.433A>T	NP_000209.2:p.Ile145Phe
NM_181798.1:c.52A>T , LRG_287t2:c.52A>T	NP_861463.1:p.Ile18Phe
NM_000218.3:c.433A>T MANE Select	NP_000209.2:p.Ile145Phe