Canonical Allele Identifier: CA029312

Gene: KCNQ1

Linked Data

• dbSNP Id: rs774770910
• ExAC: 11:2610135 CT / C
• gnomAD v2: 11-2610135-CT-C
• gnomAD v4: 11-2588905-CT-C
• MyVariant Identifiers: chr11:g.2610136del (hg19) ; chr11:g.2588906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588911del , CM000673.2:g.2588911del	GRCh38
NC_000011.9:g.2610141del , CM000673.1:g.2610141del	GRCh37
NC_000011.8:g.2566717del	NCBI36
NG_008935.1:g.148921del , LRG_287:g.148921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+57del	ENSP00000434560.2:n.1036+57del
ENST00000646564.2:c.853+57del	ENSP00000495806.2:n.853+57del
ENST00000155840.12:c.1393+57del MANE Select	ENSP00000155840.2:n.1393+57del
ENST00000335475.6:c.1012+57del	ENSP00000334497.5:n.1012+57del
ENST00000646564.1:c.499+57del	ENSP00000495806.1:n.499+57del
ENST00000155840.9:c.1393+57del	ENSP00000155840.2:n.1393+57del
ENST00000335475.5:c.1012+57del	ENSP00000334497.5:n.1012+57del
NM_000218.2:c.1393+57del , LRG_287t1:c.1393+57del	NP_000209.2:n.1393+57del
NM_181798.1:c.1012+57del , LRG_287t2:c.1012+57del	NP_861463.1:n.1012+57del
NM_000218.3:c.1393+57del MANE Select	NP_000209.2:n.1393+57del