Canonical Allele Identifier: CA1118845263

Gene:

Linked Data

• dbSNP Id: rs1812776343
• gnomAD v3: 8-125478507-A-C
• gnomAD v4: 8-125478507-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478507A>C , CM000670.2:g.125478507A>C	GRCh38
NC_000008.10:g.126490749A>C , CM000670.1:g.126490749A>C	GRCh37
NC_000008.9:g.126559931A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5193A>C