Canonical Allele Identifier: CA934478153

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1847666514
• gnomAD v3: 11-2818542-C-A
• gnomAD v4: 11-2818542-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2818542C>A , CM000673.2:g.2818542C>A	GRCh38
NC_000011.9:g.2839772C>A , CM000673.1:g.2839772C>A	GRCh37
NC_000011.8:g.2796348C>A	NCBI36
NG_008935.1:g.378552C>A , LRG_287:g.378552C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1438-29225C>A	ENSP00000434560.2:n.1438-29225C>A
ENST00000646564.2:c.1255-21174C>A	ENSP00000495806.2:n.1255-21174C>A
ENST00000155840.12:c.1795-29225C>A MANE Select	ENSP00000155840.2:n.1795-29225C>A
ENST00000335475.6:c.1414-29225C>A	ENSP00000334497.5:n.1414-29225C>A
ENST00000526095.2:c.199-29225C>A	ENSP00000494939.1:n.199-29225C>A
ENST00000646564.1:c.901-21174C>A	ENSP00000495806.1:n.901-21174C>A
ENST00000155840.9:c.1795-29225C>A	ENSP00000155840.2:n.1795-29225C>A
ENST00000335475.5:c.1414-29225C>A	ENSP00000334497.5:n.1414-29225C>A
ENST00000526095.1:n.302-29225C>A
NM_000218.2:c.1795-29225C>A , LRG_287t1:c.1795-29225C>A	NP_000209.2:n.1795-29225C>A
NM_181798.1:c.1414-29225C>A , LRG_287t2:c.1414-29225C>A	NP_861463.1:n.1414-29225C>A
NM_000218.3:c.1795-29225C>A MANE Select	NP_000209.2:n.1795-29225C>A