Canonical Allele Identifier: CA2612009449

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776900-CGTCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776902_2776906del , CM000673.2:g.2776902_2776906del	GRCh38
NC_000011.9:g.2798132_2798136del , CM000673.1:g.2798132_2798136del	GRCh37
NC_000011.8:g.2754708_2754712del	NCBI36
NG_008935.1:g.336912_336916del , LRG_287:g.336912_336916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1329-84_1329-80del	ENSP00000434560.2:n.1329-84_1329-80del
ENST00000646564.2:c.1146-84_1146-80del	ENSP00000495806.2:n.1146-84_1146-80del
ENST00000155840.12:c.1686-84_1686-80del MANE Select	ENSP00000155840.2:n.1686-84_1686-80del
ENST00000335475.6:c.1305-84_1305-80del	ENSP00000334497.5:n.1305-84_1305-80del
ENST00000646564.1:c.792-84_792-80del	ENSP00000495806.1:n.792-84_792-80del
ENST00000155840.9:c.1686-84_1686-80del	ENSP00000155840.2:n.1686-84_1686-80del
ENST00000335475.5:c.1305-84_1305-80del	ENSP00000334497.5:n.1305-84_1305-80del
NM_000218.2:c.1686-84_1686-80del , LRG_287t1:c.1686-84_1686-80del	NP_000209.2:n.1686-84_1686-80del
NM_181798.1:c.1305-84_1305-80del , LRG_287t2:c.1305-84_1305-80del	NP_861463.1:n.1305-84_1305-80del
NM_000218.3:c.1686-84_1686-80del MANE Select	NP_000209.2:n.1686-84_1686-80del