Canonical Allele Identifier: CA2790193769

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572362C>A , CM000673.2:g.2572362C>A	GRCh38
NC_000011.9:g.2593592C>A , CM000673.1:g.2593592C>A	GRCh37
NC_000011.8:g.2550168C>A	NCBI36
NG_008935.1:g.132372C>A , LRG_287:g.132372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+253C>A	ENSP00000434560.2:n.519+253C>A
ENST00000646564.2:c.478-11073C>A	ENSP00000495806.2:n.478-11073C>A
ENST00000155840.12:c.780+253C>A MANE Select	ENSP00000155840.2:n.780+253C>A
ENST00000335475.6:c.399+253C>A	ENSP00000334497.5:n.399+253C>A
ENST00000646564.1:c.124-11073C>A	ENSP00000495806.1:n.124-11073C>A
ENST00000155840.9:c.780+253C>A	ENSP00000155840.2:n.780+253C>A
ENST00000335475.5:c.399+253C>A	ENSP00000334497.5:n.399+253C>A
ENST00000496887.6:c.519+253C>A	ENSP00000434560.1:n.519+253C>A
NM_000218.2:c.780+253C>A , LRG_287t1:c.780+253C>A	NP_000209.2:n.780+253C>A
NM_181798.1:c.399+253C>A , LRG_287t2:c.399+253C>A	NP_861463.1:n.399+253C>A
NM_000218.3:c.780+253C>A MANE Select	NP_000209.2:n.780+253C>A