Canonical Allele Identifier: CA799753466

Gene:

Linked Data

• dbSNP Id: rs1281248048
• gnomAD v3: 4-89655695-T-A
• gnomAD v4: 4-89655695-T-A
• MyVariant Identifiers: chr4:g.90576846T>A (hg19) ; chr4:g.89655695T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89655695T>A , CM000666.2:g.89655695T>A	GRCh38
NC_000004.11:g.90576846T>A , CM000666.1:g.90576846T>A	GRCh37
NC_000004.10:g.90795869T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_938986.1:n.434+27778T>A
XR_938987.1:n.688+27778T>A
XR_938988.1:n.554+27778T>A
XR_938990.1:n.299-35590T>A
XR_938991.1:n.434+27778T>A
XR_938994.1:n.779+27778T>A
XR_938995.1:n.613+27778T>A
XR_938986.2:n.459+27778T>A
XR_938987.2:n.748+27778T>A