Canonical Allele Identifier: CA934454882

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444849-A-C
• gnomAD v4: 11-2444849-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444849A>C , CM000673.2:g.2444849A>C	GRCh38
NC_000011.9:g.2466079A>C , CM000673.1:g.2466079A>C	GRCh37
NC_000011.8:g.2422655A>C	NCBI36
NG_008935.1:g.4859A>C , LRG_287:g.4859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+141A>C	ENSP00000434560.2:n.23+141A>C
ENST00000496887.6:c.23+141A>C	ENSP00000434560.1:n.23+141A>C