Canonical Allele Identifier: CA1004589662

Gene:

Linked Data

• dbSNP Id: rs1176118640
• gnomAD v3: 1-94564049-A-C
• gnomAD v4: 1-94564049-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94564049A>C , CM000663.2:g.94564049A>C	GRCh38
NC_000001.10:g.95029605A>C , CM000663.1:g.95029605A>C	GRCh37
NC_000001.9:g.94802193A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738161.1:n.461+436A>C