Canonical Allele Identifier: CA472038069

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593294A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572064A>G , CM000673.2:g.2572064A>G	GRCh38
NC_000011.9:g.2593294A>G , CM000673.1:g.2593294A>G	GRCh37
NC_000011.8:g.2549870A>G	NCBI36
NG_008935.1:g.132074A>G , LRG_287:g.132074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.474A>G	ENSP00000434560.2:p.Gly158=
ENST00000646564.2:c.478-11371A>G	ENSP00000495806.2:n.478-11371A>G
ENST00000155840.12:c.735A>G MANE Select	ENSP00000155840.2:p.Gly245=
ENST00000335475.6:c.354A>G	ENSP00000334497.5:p.Gly118=
ENST00000646564.1:c.124-11371A>G	ENSP00000495806.1:n.124-11371A>G
ENST00000155840.9:c.735A>G	ENSP00000155840.2:p.Gly245=
ENST00000335475.5:c.354A>G	ENSP00000334497.5:p.Gly118=
ENST00000496887.6:c.474A>G	ENSP00000434560.1:p.Gly158=
NM_000218.2:c.735A>G , LRG_287t1:c.735A>G	NP_000209.2:p.Gly245=
NM_181798.1:c.354A>G , LRG_287t2:c.354A>G	NP_861463.1:p.Gly118=
NM_000218.3:c.735A>G MANE Select	NP_000209.2:p.Gly245=