Canonical Allele Identifier: CA934476670

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846547583
• gnomAD v3: 11-2769124-TG-T
• gnomAD v4: 11-2769124-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769126del , CM000673.2:g.2769126del	GRCh38
NC_000011.9:g.2790356del , CM000673.1:g.2790356del	GRCh37
NC_000011.8:g.2746932del	NCBI36
NG_008935.1:g.329136del , LRG_287:g.329136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+207del	ENSP00000434560.2:n.1233+207del
ENST00000646564.2:c.1050+207del	ENSP00000495806.2:n.1050+207del
ENST00000155840.12:c.1590+207del MANE Select	ENSP00000155840.2:n.1590+207del
ENST00000335475.6:c.1209+207del	ENSP00000334497.5:n.1209+207del
ENST00000646564.1:c.696+207del	ENSP00000495806.1:n.696+207del
ENST00000155840.9:c.1590+207del	ENSP00000155840.2:n.1590+207del
ENST00000335475.5:c.1209+207del	ENSP00000334497.5:n.1209+207del
NM_000218.2:c.1590+207del , LRG_287t1:c.1590+207del	NP_000209.2:n.1590+207del
NM_181798.1:c.1209+207del , LRG_287t2:c.1209+207del	NP_861463.1:n.1209+207del
NM_000218.3:c.1590+207del MANE Select	NP_000209.2:n.1590+207del