Canonical Allele Identifier: CA2612010660

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2777749-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777749A>G , CM000673.2:g.2777749A>G	GRCh38
NC_000011.9:g.2798979A>G , CM000673.1:g.2798979A>G	GRCh37
NC_000011.8:g.2755555A>G	NCBI36
NG_008935.1:g.337759A>G , LRG_287:g.337759A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1376-227A>G	ENSP00000434560.2:n.1376-227A>G
ENST00000646564.2:c.1193-227A>G	ENSP00000495806.2:n.1193-227A>G
ENST00000155840.12:c.1733-227A>G MANE Select	ENSP00000155840.2:n.1733-227A>G
ENST00000335475.6:c.1352-227A>G	ENSP00000334497.5:n.1352-227A>G
ENST00000526095.2:c.72A>G	ENSP00000494939.1:p.Arg24=
ENST00000646564.1:c.839-227A>G	ENSP00000495806.1:n.839-227A>G
ENST00000155840.9:c.1733-227A>G	ENSP00000155840.2:n.1733-227A>G
ENST00000335475.5:c.1352-227A>G	ENSP00000334497.5:n.1352-227A>G
ENST00000526095.1:n.175A>G
NM_000218.2:c.1733-227A>G , LRG_287t1:c.1733-227A>G	NP_000209.2:n.1733-227A>G
NM_181798.1:c.1352-227A>G , LRG_287t2:c.1352-227A>G	NP_861463.1:n.1352-227A>G
NM_000218.3:c.1733-227A>G MANE Select	NP_000209.2:n.1733-227A>G