Canonical Allele Identifier: CA553243414

Gene:

Linked Data

• dbSNP Id: rs1475312094
• gnomAD v2: 4-90518974-G-A
• MyVariant Identifiers: chr4:g.90518974G>A (hg19) ; chr4:g.89597823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89597823G>A , CM000666.2:g.89597823G>A	GRCh38
NC_000004.11:g.90518974G>A , CM000666.1:g.90518974G>A	GRCh37
NC_000004.10:g.90737997G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+9883G>A
XR_938987.1:n.433-330G>A
XR_938988.1:n.299-330G>A
XR_938990.1:n.298+9883G>A
XR_938991.1:n.298+9883G>A
XR_938992.1:n.298+9883G>A
XR_938994.1:n.643+9883G>A
XR_938995.1:n.477+9883G>A
XR_938996.1:n.298+9883G>A
XR_938997.1:n.298+9883G>A
XR_938986.2:n.323+9883G>A
XR_938987.2:n.493-330G>A