Canonical Allele Identifier: CA2612012061

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848587-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848592del , CM000673.2:g.2848592del	GRCh38
NC_000011.9:g.2869822del , CM000673.1:g.2869822del	GRCh37
NC_000011.8:g.2826398del	NCBI36
NG_008935.1:g.408602del , LRG_287:g.408602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*589del (KCNQ1)	ENSP00000434560.2:n.*589del
ENST00000155840.12:c.*589del (KCNQ1) MANE Select	ENSP00000155840.2:n.*589del
ENST00000335475.6:c.*589del (KCNQ1)	ENSP00000334497.5:n.*589del
ENST00000155840.9:c.*589del (KCNQ1)	ENSP00000155840.2:n.*589del
NM_000218.2:c.*589del , LRG_287t1:c.*589del (KCNQ1)	NP_000209.2:n.*589del
NM_181798.1:c.*589del , LRG_287t2:c.*589del (KCNQ1)	NP_861463.1:n.*589del
NR_130721.1:n.778-8146del (KCNQ1-AS1)
NM_000218.3:c.*589del (KCNQ1) MANE Select	NP_000209.2:n.*589del