Canonical Allele Identifier: CA379133008

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604706G>C (hg19) ; chr11:g.2583476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583476G>C , CM000673.2:g.2583476G>C	GRCh38
NC_000011.9:g.2604706G>C , CM000673.1:g.2604706G>C	GRCh37
NC_000011.8:g.2561282G>C	NCBI36
NG_008935.1:g.143486G>C , LRG_287:g.143486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.702G>C	ENSP00000434560.2:p.Gln234His
ENST00000646564.2:c.519G>C	ENSP00000495806.2:p.Gln173His
ENST00000155840.12:c.963G>C MANE Select	ENSP00000155840.2:p.Gln321His
ENST00000335475.6:c.582G>C	ENSP00000334497.5:p.Gln194His
ENST00000646564.1:c.165G>C	ENSP00000495806.1:p.Gln55His
ENST00000155840.9:c.963G>C	ENSP00000155840.2:p.Gln321His
ENST00000335475.5:c.582G>C	ENSP00000334497.5:p.Gln194His
NM_000218.2:c.963G>C , LRG_287t1:c.963G>C	NP_000209.2:p.Gln321His
NM_181798.1:c.582G>C , LRG_287t2:c.582G>C	NP_861463.1:p.Gln194His
NM_000218.3:c.963G>C MANE Select	NP_000209.2:p.Gln321His