Canonical Allele Identifier: CA934454846

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1589883985
• gnomAD v3: 11-2444838-T-C
• gnomAD v4: 11-2444838-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444838T>C , CM000673.2:g.2444838T>C	GRCh38
NC_000011.9:g.2466068T>C , CM000673.1:g.2466068T>C	GRCh37
NC_000011.8:g.2422644T>C	NCBI36
NG_008935.1:g.4848T>C , LRG_287:g.4848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+130T>C	ENSP00000434560.2:n.23+130T>C
ENST00000496887.6:c.23+130T>C	ENSP00000434560.1:n.23+130T>C