Canonical Allele Identifier: CA379130969

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1589957752
• MyVariant Identifiers: chr11:g.2593284A>C (hg19) ; chr11:g.2572054A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572054A>C , CM000673.2:g.2572054A>C	GRCh38
NC_000011.9:g.2593284A>C , CM000673.1:g.2593284A>C	GRCh37
NC_000011.8:g.2549860A>C	NCBI36
NG_008935.1:g.132064A>C , LRG_287:g.132064A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.464A>C	ENSP00000434560.2:p.Asp155Ala
ENST00000646564.2:c.478-11381A>C	ENSP00000495806.2:n.478-11381A>C
ENST00000155840.12:c.725A>C MANE Select	ENSP00000155840.2:p.Asp242Ala
ENST00000335475.6:c.344A>C	ENSP00000334497.5:p.Asp115Ala
ENST00000646564.1:c.124-11381A>C	ENSP00000495806.1:n.124-11381A>C
ENST00000155840.9:c.725A>C	ENSP00000155840.2:p.Asp242Ala
ENST00000335475.5:c.344A>C	ENSP00000334497.5:p.Asp115Ala
ENST00000496887.6:c.464A>C	ENSP00000434560.1:p.Asp155Ala
NM_000218.2:c.725A>C , LRG_287t1:c.725A>C	NP_000209.2:p.Asp242Ala
NM_181798.1:c.344A>C , LRG_287t2:c.344A>C	NP_861463.1:p.Asp115Ala
NM_000218.3:c.725A>C MANE Select	NP_000209.2:p.Asp242Ala