Canonical Allele Identifier: CA2612011773

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848206-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848211del , CM000673.2:g.2848211del	GRCh38
NC_000011.9:g.2869441del , CM000673.1:g.2869441del	GRCh37
NC_000011.8:g.2826017del	NCBI36
NG_008935.1:g.408221del , LRG_287:g.408221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*208del (KCNQ1)	ENSP00000434560.2:n.*208del
ENST00000155840.12:c.*208del (KCNQ1) MANE Select	ENSP00000155840.2:n.*208del
ENST00000335475.6:c.*208del (KCNQ1)	ENSP00000334497.5:n.*208del
ENST00000526095.2:c.*208del (KCNQ1)	ENSP00000494939.1:n.*208del
ENST00000155840.9:c.*208del (KCNQ1)	ENSP00000155840.2:n.*208del
ENST00000335475.5:c.*208del (KCNQ1)	ENSP00000334497.5:n.*208del
ENST00000526095.1:n.746del (KCNQ1)
NM_000218.2:c.*208del , LRG_287t1:c.*208del (KCNQ1)	NP_000209.2:n.*208del
NM_181798.1:c.*208del , LRG_287t2:c.*208del (KCNQ1)	NP_861463.1:n.*208del
NR_130721.1:n.778-7765del (KCNQ1-AS1)
NM_000218.3:c.*208del (KCNQ1) MANE Select	NP_000209.2:n.*208del