Canonical Allele Identifier: CA379139646

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199473482
• MyVariant Identifiers: chr11:g.2799221G>C (hg19) ; chr11:g.2777991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777991G>C , CM000673.2:g.2777991G>C	GRCh38
NC_000011.9:g.2799221G>C , CM000673.1:g.2799221G>C	GRCh37
NC_000011.8:g.2755797G>C	NCBI36
NG_008935.1:g.338001G>C , LRG_287:g.338001G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1391G>C	ENSP00000434560.2:p.Arg464Pro
ENST00000646564.2:c.1208G>C	ENSP00000495806.2:p.Arg403Pro
ENST00000155840.12:c.1748G>C MANE Select	ENSP00000155840.2:p.Arg583Pro
ENST00000335475.6:c.1367G>C	ENSP00000334497.5:p.Arg456Pro
ENST00000526095.2:c.152G>C	ENSP00000494939.1:p.Arg51Pro
ENST00000646564.1:c.854G>C	ENSP00000495806.1:p.Arg285Pro
ENST00000155840.9:c.1748G>C	ENSP00000155840.2:p.Arg583Pro
ENST00000335475.5:c.1367G>C	ENSP00000334497.5:p.Arg456Pro
ENST00000526095.1:n.255G>C
NM_000218.2:c.1748G>C , LRG_287t1:c.1748G>C	NP_000209.2:p.Arg583Pro
NM_181798.1:c.1367G>C , LRG_287t2:c.1367G>C	NP_861463.1:p.Arg456Pro
NM_000218.3:c.1748G>C MANE Select	NP_000209.2:p.Arg583Pro