Canonical Allele Identifier: CA2612010921

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2777922-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777923del , CM000673.2:g.2777923del	GRCh38
NC_000011.9:g.2799153del , CM000673.1:g.2799153del	GRCh37
NC_000011.8:g.2755729del	NCBI36
NG_008935.1:g.337933del , LRG_287:g.337933del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1376-53del	ENSP00000434560.2:n.1376-53del
ENST00000646564.2:c.1193-53del	ENSP00000495806.2:n.1193-53del
ENST00000155840.12:c.1733-53del MANE Select	ENSP00000155840.2:n.1733-53del
ENST00000335475.6:c.1352-53del	ENSP00000334497.5:n.1352-53del
ENST00000526095.2:c.137-53del	ENSP00000494939.1:n.137-53del
ENST00000646564.1:c.839-53del	ENSP00000495806.1:n.839-53del
ENST00000155840.9:c.1733-53del	ENSP00000155840.2:n.1733-53del
ENST00000335475.5:c.1352-53del	ENSP00000334497.5:n.1352-53del
ENST00000526095.1:n.240-53del
NM_000218.2:c.1733-53del , LRG_287t1:c.1733-53del	NP_000209.2:n.1733-53del
NM_181798.1:c.1352-53del , LRG_287t2:c.1352-53del	NP_861463.1:n.1352-53del
NM_000218.3:c.1733-53del MANE Select	NP_000209.2:n.1733-53del