Canonical Allele Identifier: CA1948242788

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848347501
• gnomAD v4: 11-2572162-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572162G>C , CM000673.2:g.2572162G>C	GRCh38
NC_000011.9:g.2593392G>C , CM000673.1:g.2593392G>C	GRCh37
NC_000011.8:g.2549968G>C	NCBI36
NG_008935.1:g.132172G>C , LRG_287:g.132172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+53G>C	ENSP00000434560.2:n.519+53G>C
ENST00000646564.2:c.478-11273G>C	ENSP00000495806.2:n.478-11273G>C
ENST00000155840.12:c.780+53G>C MANE Select	ENSP00000155840.2:n.780+53G>C
ENST00000335475.6:c.399+53G>C	ENSP00000334497.5:n.399+53G>C
ENST00000646564.1:c.124-11273G>C	ENSP00000495806.1:n.124-11273G>C
ENST00000155840.9:c.780+53G>C	ENSP00000155840.2:n.780+53G>C
ENST00000335475.5:c.399+53G>C	ENSP00000334497.5:n.399+53G>C
ENST00000496887.6:c.519+53G>C	ENSP00000434560.1:n.519+53G>C
NM_000218.2:c.780+53G>C , LRG_287t1:c.780+53G>C	NP_000209.2:n.780+53G>C
NM_181798.1:c.399+53G>C , LRG_287t2:c.399+53G>C	NP_861463.1:n.399+53G>C
NM_000218.3:c.780+53G>C MANE Select	NP_000209.2:n.780+53G>C