Canonical Allele Identifier: CA2840840821

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776095C>G , CM000673.2:g.2776095C>G	GRCh38
NC_000011.9:g.2797325C>G , CM000673.1:g.2797325C>G	GRCh37
NC_000011.8:g.2753901C>G	NCBI36
NG_008935.1:g.336105C>G , LRG_287:g.336105C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+41C>G	ENSP00000434560.2:n.1328+41C>G
ENST00000646564.2:c.1145+41C>G	ENSP00000495806.2:n.1145+41C>G
ENST00000155840.12:c.1685+41C>G MANE Select	ENSP00000155840.2:n.1685+41C>G
ENST00000335475.6:c.1304+41C>G	ENSP00000334497.5:n.1304+41C>G
ENST00000646564.1:c.791+41C>G	ENSP00000495806.1:n.791+41C>G
ENST00000155840.9:c.1685+41C>G	ENSP00000155840.2:n.1685+41C>G
ENST00000335475.5:c.1304+41C>G	ENSP00000334497.5:n.1304+41C>G
NM_000218.2:c.1685+41C>G , LRG_287t1:c.1685+41C>G	NP_000209.2:n.1685+41C>G
NM_181798.1:c.1304+41C>G , LRG_287t2:c.1304+41C>G	NP_861463.1:n.1304+41C>G
NM_000218.3:c.1685+41C>G MANE Select	NP_000209.2:n.1685+41C>G