Canonical Allele Identifier: CA1065242193

Gene:

Linked Data

• dbSNP Id: rs1722652824
• gnomAD v3: 4-89656005-A-G
• gnomAD v4: 4-89656005-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89656005A>G , CM000666.2:g.89656005A>G	GRCh38
NC_000004.11:g.90577156A>G , CM000666.1:g.90577156A>G	GRCh37
NC_000004.10:g.90796179A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.434+28088A>G
XR_938987.1:n.688+28088A>G
XR_938988.1:n.554+28088A>G
XR_938990.1:n.299-35280A>G
XR_938991.1:n.434+28088A>G
XR_938994.1:n.779+28088A>G
XR_938995.1:n.613+28088A>G
XR_938986.2:n.459+28088A>G
XR_938987.2:n.748+28088A>G