Canonical Allele Identifier: CA2612010771

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2777811-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777812del , CM000673.2:g.2777812del	GRCh38
NC_000011.9:g.2799042del , CM000673.1:g.2799042del	GRCh37
NC_000011.8:g.2755618del	NCBI36
NG_008935.1:g.337822del , LRG_287:g.337822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1376-164del	ENSP00000434560.2:n.1376-164del
ENST00000646564.2:c.1193-164del	ENSP00000495806.2:n.1193-164del
ENST00000155840.12:c.1733-164del MANE Select	ENSP00000155840.2:n.1733-164del
ENST00000335475.6:c.1352-164del	ENSP00000334497.5:n.1352-164del
ENST00000526095.2:c.135del	ENSP00000494939.1:p.Glu46LysfsTer15
ENST00000646564.1:c.839-164del	ENSP00000495806.1:n.839-164del
ENST00000155840.9:c.1733-164del	ENSP00000155840.2:n.1733-164del
ENST00000335475.5:c.1352-164del	ENSP00000334497.5:n.1352-164del
ENST00000526095.1:n.238del
NM_000218.2:c.1733-164del , LRG_287t1:c.1733-164del	NP_000209.2:n.1733-164del
NM_181798.1:c.1352-164del , LRG_287t2:c.1352-164del	NP_861463.1:n.1352-164del
NM_000218.3:c.1733-164del MANE Select	NP_000209.2:n.1733-164del