Canonical Allele Identifier: CA216359852

Gene: KCNQ1

Linked Data

• dbSNP Id: rs200997512
• gnomAD v2: 11-2844156-TA-T
• gnomAD v3: 11-2822926-TA-T
• gnomAD v4: 11-2822926-TA-T
• MyVariant Identifiers: chr11:g.2844158del (hg19) ; chr11:g.2844157del (hg19) ; chr11:g.2822928del (hg38) ; chr11:g.2822927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2822939del , CM000673.2:g.2822939del	GRCh38
NC_000011.9:g.2844169del , CM000673.1:g.2844169del	GRCh37
NC_000011.8:g.2800745del	NCBI36
NG_008935.1:g.382949del , LRG_287:g.382949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-24828del	ENSP00000434560.2:n.1438-24828del
ENST00000646564.2:c.1255-16777del	ENSP00000495806.2:n.1255-16777del
ENST00000155840.12:c.1795-24828del MANE Select	ENSP00000155840.2:n.1795-24828del
ENST00000335475.6:c.1414-24828del	ENSP00000334497.5:n.1414-24828del
ENST00000526095.2:c.199-24828del	ENSP00000494939.1:n.199-24828del
ENST00000646564.1:c.901-16777del	ENSP00000495806.1:n.901-16777del
ENST00000155840.9:c.1795-24828del	ENSP00000155840.2:n.1795-24828del
ENST00000335475.5:c.1414-24828del	ENSP00000334497.5:n.1414-24828del
ENST00000526095.1:n.302-24828del
NM_000218.2:c.1795-24828del , LRG_287t1:c.1795-24828del	NP_000209.2:n.1795-24828del
NM_181798.1:c.1414-24828del , LRG_287t2:c.1414-24828del	NP_861463.1:n.1414-24828del
NM_000218.3:c.1795-24828del MANE Select	NP_000209.2:n.1795-24828del