Canonical Allele Identifier: CA379131041

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572090-T-C
• MyVariant Identifiers: chr11:g.2593320T>C (hg19) ; chr11:g.2572090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572090T>C , CM000673.2:g.2572090T>C	GRCh38
NC_000011.9:g.2593320T>C , CM000673.1:g.2593320T>C	GRCh37
NC_000011.8:g.2549896T>C	NCBI36
NG_008935.1:g.132100T>C , LRG_287:g.132100T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.500T>C	ENSP00000434560.2:p.Val167Ala
ENST00000646564.2:c.478-11345T>C	ENSP00000495806.2:n.478-11345T>C
ENST00000155840.12:c.761T>C MANE Select	ENSP00000155840.2:p.Val254Ala
ENST00000335475.6:c.380T>C	ENSP00000334497.5:p.Val127Ala
ENST00000646564.1:c.124-11345T>C	ENSP00000495806.1:n.124-11345T>C
ENST00000155840.9:c.761T>C	ENSP00000155840.2:p.Val254Ala
ENST00000335475.5:c.380T>C	ENSP00000334497.5:p.Val127Ala
ENST00000496887.6:c.500T>C	ENSP00000434560.1:p.Val167Ala
NM_000218.2:c.761T>C , LRG_287t1:c.761T>C	NP_000209.2:p.Val254Ala
NM_181798.1:c.380T>C , LRG_287t2:c.380T>C	NP_861463.1:p.Val127Ala
NM_000218.3:c.761T>C MANE Select	NP_000209.2:p.Val254Ala