Canonical Allele Identifier: CA799758347

Gene:

Linked Data

• dbSNP Id: rs1273277959
• gnomAD v3: 4-89598083-C-A
• gnomAD v4: 4-89598083-C-A
• MyVariant Identifiers: chr4:g.90519234C>A (hg19) ; chr4:g.89598083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89598083C>A , CM000666.2:g.89598083C>A	GRCh38
NC_000004.11:g.90519234C>A , CM000666.1:g.90519234C>A	GRCh37
NC_000004.10:g.90738257C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+10143C>A
XR_938987.1:n.433-70C>A
XR_938988.1:n.299-70C>A
XR_938990.1:n.298+10143C>A
XR_938991.1:n.298+10143C>A
XR_938992.1:n.298+10143C>A
XR_938994.1:n.643+10143C>A
XR_938995.1:n.477+10143C>A
XR_938996.1:n.298+10143C>A
XR_938997.1:n.298+10143C>A
XR_938986.2:n.323+10143C>A
XR_938987.2:n.493-70C>A