Canonical Allele Identifier: CA597109713

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1385704667
• gnomAD v2: 11-2790374-AG-A
• gnomAD v3: 11-2769144-AG-A
• gnomAD v4: 11-2769144-AG-A
• MyVariant Identifiers: chr11:g.2790375del (hg19) ; chr11:g.2769145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769147del , CM000673.2:g.2769147del	GRCh38
NC_000011.9:g.2790377del , CM000673.1:g.2790377del	GRCh37
NC_000011.8:g.2746953del	NCBI36
NG_008935.1:g.329157del , LRG_287:g.329157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+228del	ENSP00000434560.2:n.1233+228del
ENST00000646564.2:c.1050+228del	ENSP00000495806.2:n.1050+228del
ENST00000155840.12:c.1590+228del MANE Select	ENSP00000155840.2:n.1590+228del
ENST00000335475.6:c.1209+228del	ENSP00000334497.5:n.1209+228del
ENST00000646564.1:c.696+228del	ENSP00000495806.1:n.696+228del
ENST00000155840.9:c.1590+228del	ENSP00000155840.2:n.1590+228del
ENST00000335475.5:c.1209+228del	ENSP00000334497.5:n.1209+228del
NM_000218.2:c.1590+228del , LRG_287t1:c.1590+228del	NP_000209.2:n.1590+228del
NM_181798.1:c.1209+228del , LRG_287t2:c.1209+228del	NP_861463.1:n.1209+228del
NM_000218.3:c.1590+228del MANE Select	NP_000209.2:n.1590+228del