Canonical Allele Identifier: CA472459428

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790089T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768859T>C , CM000673.2:g.2768859T>C	GRCh38
NC_000011.9:g.2790089T>C , CM000673.1:g.2790089T>C	GRCh37
NC_000011.8:g.2746665T>C	NCBI36
NG_008935.1:g.328869T>C , LRG_287:g.328869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1173T>C	ENSP00000434560.2:p.His391=
ENST00000646564.2:c.990T>C	ENSP00000495806.2:p.His330=
ENST00000155840.12:c.1530T>C MANE Select	ENSP00000155840.2:p.His510=
ENST00000335475.6:c.1149T>C	ENSP00000334497.5:p.His383=
ENST00000646564.1:c.636T>C	ENSP00000495806.1:p.His212=
ENST00000155840.9:c.1530T>C	ENSP00000155840.2:p.His510=
ENST00000335475.5:c.1149T>C	ENSP00000334497.5:p.His383=
NM_000218.2:c.1530T>C , LRG_287t1:c.1530T>C	NP_000209.2:p.His510=
NM_181798.1:c.1149T>C , LRG_287t2:c.1149T>C	NP_861463.1:p.His383=
NM_000218.3:c.1530T>C MANE Select	NP_000209.2:p.His510=