Canonical Allele Identifier: CA379134784

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848612858
• MyVariant Identifiers: chr11:g.2608875A>G (hg19) ; chr11:g.2587645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587645A>G , CM000673.2:g.2587645A>G	GRCh38
NC_000011.9:g.2608875A>G , CM000673.1:g.2608875A>G	GRCh37
NC_000011.8:g.2565451A>G	NCBI36
NG_008935.1:g.147655A>G , LRG_287:g.147655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.847A>G	ENSP00000434560.2:p.Ser283Gly
ENST00000646564.2:c.664A>G	ENSP00000495806.2:p.Ser222Gly
ENST00000155840.12:c.1204A>G MANE Select	ENSP00000155840.2:p.Ser402Gly
ENST00000335475.6:c.823A>G	ENSP00000334497.5:p.Ser275Gly
ENST00000646564.1:c.310A>G	ENSP00000495806.1:p.Ser104Gly
ENST00000155840.9:c.1204A>G	ENSP00000155840.2:p.Ser402Gly
ENST00000335475.5:c.823A>G	ENSP00000334497.5:p.Ser275Gly
NM_000218.2:c.1204A>G , LRG_287t1:c.1204A>G	NP_000209.2:p.Ser402Gly
NM_181798.1:c.823A>G , LRG_287t2:c.823A>G	NP_861463.1:p.Ser275Gly
NM_000218.3:c.1204A>G MANE Select	NP_000209.2:p.Ser402Gly