Canonical Allele Identifier: CA379131718

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1554893260
• MyVariant Identifiers: chr11:g.2594197A>G (hg19) ; chr11:g.2572967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572967A>G , CM000673.2:g.2572967A>G	GRCh38
NC_000011.9:g.2594197A>G , CM000673.1:g.2594197A>G	GRCh37
NC_000011.8:g.2550773A>G	NCBI36
NG_008935.1:g.132977A>G , LRG_287:g.132977A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.641A>G	ENSP00000434560.2:p.Asp214Gly
ENST00000646564.2:c.478-10468A>G	ENSP00000495806.2:n.478-10468A>G
ENST00000155840.12:c.902A>G MANE Select	ENSP00000155840.2:p.Asp301Gly
ENST00000335475.6:c.521A>G	ENSP00000334497.5:p.Asp174Gly
ENST00000646564.1:c.124-10468A>G	ENSP00000495806.1:n.124-10468A>G
ENST00000155840.9:c.902A>G	ENSP00000155840.2:p.Asp301Gly
ENST00000335475.5:c.521A>G	ENSP00000334497.5:p.Asp174Gly
NM_000218.2:c.902A>G , LRG_287t1:c.902A>G	NP_000209.2:p.Asp301Gly
NM_181798.1:c.521A>G , LRG_287t2:c.521A>G	NP_861463.1:p.Asp174Gly
NM_000218.3:c.902A>G MANE Select	NP_000209.2:p.Asp301Gly