Canonical Allele Identifier: CA799758190

Gene:

Linked Data

• dbSNP Id: rs558995644
• gnomAD v3: 4-89597869-G-T
• gnomAD v4: 4-89597869-G-T
• MyVariant Identifiers: chr4:g.90519020G>T (hg19) ; chr4:g.89597869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89597869G>T , CM000666.2:g.89597869G>T	GRCh38
NC_000004.11:g.90519020G>T , CM000666.1:g.90519020G>T	GRCh37
NC_000004.10:g.90738043G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+9929G>T
XR_938987.1:n.433-284G>T
XR_938988.1:n.299-284G>T
XR_938990.1:n.298+9929G>T
XR_938991.1:n.298+9929G>T
XR_938992.1:n.298+9929G>T
XR_938994.1:n.643+9929G>T
XR_938995.1:n.477+9929G>T
XR_938996.1:n.298+9929G>T
XR_938997.1:n.298+9929G>T
XR_938986.2:n.323+9929G>T
XR_938987.2:n.493-284G>T