Canonical Allele Identifier: CA2574728369

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572755T>G , CM000673.2:g.2572755T>G	GRCh38
NC_000011.9:g.2593985T>G , CM000673.1:g.2593985T>G	GRCh37
NC_000011.8:g.2550561T>G	NCBI36
NG_008935.1:g.132765T>G , LRG_287:g.132765T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-91T>G	ENSP00000434560.2:n.520-91T>G
ENST00000646564.2:c.478-10680T>G	ENSP00000495806.2:n.478-10680T>G
ENST00000155840.12:c.781-91T>G MANE Select	ENSP00000155840.2:n.781-91T>G
ENST00000335475.6:c.400-91T>G	ENSP00000334497.5:n.400-91T>G
ENST00000646564.1:c.124-10680T>G	ENSP00000495806.1:n.124-10680T>G
ENST00000155840.9:c.781-91T>G	ENSP00000155840.2:n.781-91T>G
ENST00000335475.5:c.400-91T>G	ENSP00000334497.5:n.400-91T>G
ENST00000496887.6:c.520-91T>G	ENSP00000434560.1:n.520-91T>G
NM_000218.2:c.781-91T>G , LRG_287t1:c.781-91T>G	NP_000209.2:n.781-91T>G
NM_181798.1:c.400-91T>G , LRG_287t2:c.400-91T>G	NP_861463.1:n.400-91T>G
NM_000218.3:c.781-91T>G MANE Select	NP_000209.2:n.781-91T>G