Canonical Allele Identifier: CA934454838

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846006512
• gnomAD v3: 11-2444831-A-C
• gnomAD v4: 11-2444831-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444831A>C , CM000673.2:g.2444831A>C	GRCh38
NC_000011.9:g.2466061A>C , CM000673.1:g.2466061A>C	GRCh37
NC_000011.8:g.2422637A>C	NCBI36
NG_008935.1:g.4841A>C , LRG_287:g.4841A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+123A>C	ENSP00000434560.2:n.23+123A>C
ENST00000496887.6:c.23+123A>C	ENSP00000434560.1:n.23+123A>C