Canonical Allele Identifier: CA2532285884

Gene: KCNQ1

Linked Data

• dbSNP Id: rs2134064958
• gnomAD v3: 11-2828385-GA-G
• gnomAD v4: 11-2828385-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2828388del , CM000673.2:g.2828388del	GRCh38
NC_000011.9:g.2849618del , CM000673.1:g.2849618del	GRCh37
NC_000011.8:g.2806194del	NCBI36
NG_008935.1:g.388398del , LRG_287:g.388398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-19379del	ENSP00000434560.2:n.1438-19379del
ENST00000646564.2:c.1255-11328del	ENSP00000495806.2:n.1255-11328del
ENST00000155840.12:c.1795-19379del MANE Select	ENSP00000155840.2:n.1795-19379del
ENST00000335475.6:c.1414-19379del	ENSP00000334497.5:n.1414-19379del
ENST00000526095.2:c.199-19379del	ENSP00000494939.1:n.199-19379del
ENST00000646564.1:c.901-11328del	ENSP00000495806.1:n.901-11328del
ENST00000155840.9:c.1795-19379del	ENSP00000155840.2:n.1795-19379del
ENST00000335475.5:c.1414-19379del	ENSP00000334497.5:n.1414-19379del
ENST00000526095.1:n.302-19379del
NM_000218.2:c.1795-19379del , LRG_287t1:c.1795-19379del	NP_000209.2:n.1795-19379del
NM_181798.1:c.1414-19379del , LRG_287t2:c.1414-19379del	NP_861463.1:n.1414-19379del
NM_000218.3:c.1795-19379del MANE Select	NP_000209.2:n.1795-19379del