Canonical Allele Identifier: CA101482597

Gene:

Linked Data

• dbSNP Id: rs997260550
• gnomAD v3: 4-89598221-A-G
• gnomAD v4: 4-89598221-A-G
• MyVariant Identifiers: chr4:g.90519372A>G (hg19) ; chr4:g.89598221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89598221A>G , CM000666.2:g.89598221A>G	GRCh38
NC_000004.11:g.90519372A>G , CM000666.1:g.90519372A>G	GRCh37
NC_000004.10:g.90738395A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+10281A>G
XR_938987.1:n.501A>G
XR_938988.1:n.367A>G
XR_938990.1:n.298+10281A>G
XR_938991.1:n.298+10281A>G
XR_938992.1:n.298+10281A>G
XR_938994.1:n.643+10281A>G
XR_938995.1:n.477+10281A>G
XR_938996.1:n.298+10281A>G
XR_938997.1:n.298+10281A>G
XR_938986.2:n.323+10281A>G
XR_938987.2:n.561A>G