Canonical Allele Identifier: CA1948310258

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846546457
• gnomAD v4: 11-2769055-CCTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769058_2769061del , CM000673.2:g.2769058_2769061del	GRCh38
NC_000011.9:g.2790288_2790291del , CM000673.1:g.2790288_2790291del	GRCh37
NC_000011.8:g.2746864_2746867del	NCBI36
NG_008935.1:g.329068_329071del , LRG_287:g.329068_329071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+139_1233+142del	ENSP00000434560.2:n.1233+139_1233+142del
ENST00000646564.2:c.1050+139_1050+142del	ENSP00000495806.2:n.1050+139_1050+142del
ENST00000155840.12:c.1590+139_1590+142del MANE Select	ENSP00000155840.2:n.1590+139_1590+142del
ENST00000335475.6:c.1209+139_1209+142del	ENSP00000334497.5:n.1209+139_1209+142del
ENST00000646564.1:c.696+139_696+142del	ENSP00000495806.1:n.696+139_696+142del
ENST00000155840.9:c.1590+139_1590+142del	ENSP00000155840.2:n.1590+139_1590+142del
ENST00000335475.5:c.1209+139_1209+142del	ENSP00000334497.5:n.1209+139_1209+142del
NM_000218.2:c.1590+139_1590+142del , LRG_287t1:c.1590+139_1590+142del	NP_000209.2:n.1590+139_1590+142del
NM_181798.1:c.1209+139_1209+142del , LRG_287t2:c.1209+139_1209+142del	NP_861463.1:n.1209+139_1209+142del
NM_000218.3:c.1590+139_1590+142del MANE Select	NP_000209.2:n.1590+139_1590+142del