Canonical Allele Identifier: CA674973636

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1400321212
• gnomAD v4: 11-2571909-GAGGGGC-G
• MyVariant Identifiers: chr11:g.2593140_2593145del (hg19) ; chr11:g.2571910_2571915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571920_2571925del , CM000673.2:g.2571920_2571925del	GRCh38
NC_000011.9:g.2593150_2593155del , CM000673.1:g.2593150_2593155del	GRCh37
NC_000011.8:g.2549726_2549731del	NCBI36
NG_008935.1:g.131930_131935del , LRG_287:g.131930_131935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-93_423-88del	ENSP00000434560.2:n.423-93_423-88del
ENST00000646564.2:c.478-11515_478-11510del	ENSP00000495806.2:n.478-11515_478-11510del
ENST00000155840.12:c.684-93_684-88del MANE Select	ENSP00000155840.2:n.684-93_684-88del
ENST00000335475.6:c.303-93_303-88del	ENSP00000334497.5:n.303-93_303-88del
ENST00000646564.1:c.124-11515_124-11510del	ENSP00000495806.1:n.124-11515_124-11510del
ENST00000155840.9:c.684-93_684-88del	ENSP00000155840.2:n.684-93_684-88del
ENST00000335475.5:c.303-93_303-88del	ENSP00000334497.5:n.303-93_303-88del
ENST00000496887.6:c.423-93_423-88del	ENSP00000434560.1:n.423-93_423-88del
NM_000218.2:c.684-93_684-88del , LRG_287t1:c.684-93_684-88del	NP_000209.2:n.684-93_684-88del
NM_181798.1:c.303-93_303-88del , LRG_287t2:c.303-93_303-88del	NP_861463.1:n.303-93_303-88del
NM_000218.3:c.684-93_684-88del MANE Select	NP_000209.2:n.684-93_684-88del