Canonical Allele Identifier: CA472039961

Gene: KCNQ1

Linked Data

• dbSNP Id: rs2133760862
• MyVariant Identifiers: chr11:g.2610062T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588832T>C , CM000673.2:g.2588832T>C	GRCh38
NC_000011.9:g.2610062T>C , CM000673.1:g.2610062T>C	GRCh37
NC_000011.8:g.2566638T>C	NCBI36
NG_008935.1:g.148842T>C , LRG_287:g.148842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1014T>C	ENSP00000434560.2:p.Ser338=
ENST00000646564.2:c.831T>C	ENSP00000495806.2:p.Ser277=
ENST00000155840.12:c.1371T>C MANE Select	ENSP00000155840.2:p.Ser457=
ENST00000335475.6:c.990T>C	ENSP00000334497.5:p.Ser330=
ENST00000646564.1:c.477T>C	ENSP00000495806.1:p.Ser159=
ENST00000155840.9:c.1371T>C	ENSP00000155840.2:p.Ser457=
ENST00000335475.5:c.990T>C	ENSP00000334497.5:p.Ser330=
NM_000218.2:c.1371T>C , LRG_287t1:c.1371T>C	NP_000209.2:p.Ser457=
NM_181798.1:c.990T>C , LRG_287t2:c.990T>C	NP_861463.1:p.Ser330=
NM_000218.3:c.1371T>C MANE Select	NP_000209.2:p.Ser457=