Canonical Allele Identifier: CA597370681

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1273937375
• gnomAD v2: 11-2723693-AG-A
• MyVariant Identifiers: chr11:g.2723694del (hg19) ; chr11:g.2702464del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702466del , CM000673.2:g.2702466del	GRCh38
NC_000011.9:g.2723696del , CM000673.1:g.2723696del	GRCh37
NC_000011.8:g.2680272del	NCBI36
NG_008935.1:g.262476del , LRG_287:g.262476del
NG_016178.2:g.2535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+40385del	ENSP00000434560.2:n.1157+40385del
ENST00000646564.2:c.974+40385del	ENSP00000495806.2:n.974+40385del
ENST00000155840.12:c.1514+40385del MANE Select	ENSP00000155840.2:n.1514+40385del
ENST00000335475.6:c.1133+40385del	ENSP00000334497.5:n.1133+40385del
ENST00000646564.1:c.620+40385del	ENSP00000495806.1:n.620+40385del
ENST00000155840.9:c.1514+40385del	ENSP00000155840.2:n.1514+40385del
ENST00000335475.5:c.1133+40385del	ENSP00000334497.5:n.1133+40385del
NM_000218.2:c.1514+40385del , LRG_287t1:c.1514+40385del	NP_000209.2:n.1514+40385del
NM_181798.1:c.1133+40385del , LRG_287t2:c.1133+40385del	NP_861463.1:n.1133+40385del
NM_000218.3:c.1514+40385del MANE Select	NP_000209.2:n.1514+40385del