Canonical Allele Identifier: CA2612003927

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572195-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572195T>C , CM000673.2:g.2572195T>C	GRCh38
NC_000011.9:g.2593425T>C , CM000673.1:g.2593425T>C	GRCh37
NC_000011.8:g.2550001T>C	NCBI36
NG_008935.1:g.132205T>C , LRG_287:g.132205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+86T>C	ENSP00000434560.2:n.519+86T>C
ENST00000646564.2:c.478-11240T>C	ENSP00000495806.2:n.478-11240T>C
ENST00000155840.12:c.780+86T>C MANE Select	ENSP00000155840.2:n.780+86T>C
ENST00000335475.6:c.399+86T>C	ENSP00000334497.5:n.399+86T>C
ENST00000646564.1:c.124-11240T>C	ENSP00000495806.1:n.124-11240T>C
ENST00000155840.9:c.780+86T>C	ENSP00000155840.2:n.780+86T>C
ENST00000335475.5:c.399+86T>C	ENSP00000334497.5:n.399+86T>C
ENST00000496887.6:c.519+86T>C	ENSP00000434560.1:n.519+86T>C
NM_000218.2:c.780+86T>C , LRG_287t1:c.780+86T>C	NP_000209.2:n.780+86T>C
NM_181798.1:c.399+86T>C , LRG_287t2:c.399+86T>C	NP_861463.1:n.399+86T>C
NM_000218.3:c.780+86T>C MANE Select	NP_000209.2:n.780+86T>C