Canonical Allele Identifier: CA379130366

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571323A>G , CM000673.2:g.2571323A>G	GRCh38
NC_000011.9:g.2592553A>G , CM000673.1:g.2592553A>G	GRCh37
NC_000011.8:g.2549129A>G	NCBI36
NG_008935.1:g.131333A>G , LRG_287:g.131333A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.605-2A>G MANE Select	NP_000209.2:n.605-2A>G
ENST00000155840.12:c.605-2A>G MANE Select	ENSP00000155840.2:n.605-2A>G
NM_000218.2:c.605-2A>G , LRG_287t1:c.605-2A>G	NP_000209.2:n.605-2A>G
NM_181798.1:c.224-2A>G , LRG_287t2:c.224-2A>G	NP_861463.1:n.224-2A>G
ENST00000155840.9:c.605-2A>G	ENSP00000155840.2:n.605-2A>G
ENST00000335475.5:c.224-2A>G	ENSP00000334497.5:n.224-2A>G
ENST00000335475.6:c.224-2A>G	ENSP00000334497.5:n.224-2A>G
ENST00000496887.6:c.344-2A>G	ENSP00000434560.1:n.344-2A>G
ENST00000496887.7:c.344-2A>G	ENSP00000434560.2:n.344-2A>G
ENST00000646564.1:c.124-12112A>G	ENSP00000495806.1:n.124-12112A>G
ENST00000646564.2:c.478-12112A>G	ENSP00000495806.2:n.478-12112A>G