Canonical Allele Identifier: CA379121891

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549208A>C (hg19) ; chr11:g.2527978A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527978A>C , CM000673.2:g.2527978A>C	GRCh38
NC_000011.9:g.2549208A>C , CM000673.1:g.2549208A>C	GRCh37
NC_000011.8:g.2505784A>C	NCBI36
NG_008935.1:g.87988A>C , LRG_287:g.87988A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.176A>C	ENSP00000434560.2:p.Glu59Ala
ENST00000646564.2:c.437A>C	ENSP00000495806.2:p.Glu146Ala
ENST00000155840.12:c.437A>C MANE Select	ENSP00000155840.2:p.Glu146Ala
ENST00000335475.6:c.56A>C	ENSP00000334497.5:p.Glu19Ala
ENST00000646564.1:c.83A>C	ENSP00000495806.1:p.Glu28Ala
ENST00000155840.9:c.437A>C	ENSP00000155840.2:p.Glu146Ala
ENST00000335475.5:c.56A>C	ENSP00000334497.5:p.Glu19Ala
ENST00000496887.6:c.176A>C	ENSP00000434560.1:p.Glu59Ala
NM_000218.2:c.437A>C , LRG_287t1:c.437A>C	NP_000209.2:p.Glu146Ala
NM_181798.1:c.56A>C , LRG_287t2:c.56A>C	NP_861463.1:p.Glu19Ala
NM_000218.3:c.437A>C MANE Select	NP_000209.2:p.Glu146Ala