Canonical Allele Identifier: CA1065242186

Gene:

Linked Data

• dbSNP Id: rs1159611696
• gnomAD v3: 4-89656000-T-G
• gnomAD v4: 4-89656000-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89656000T>G , CM000666.2:g.89656000T>G	GRCh38
NC_000004.11:g.90577151T>G , CM000666.1:g.90577151T>G	GRCh37
NC_000004.10:g.90796174T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.434+28083T>G
XR_938987.1:n.688+28083T>G
XR_938988.1:n.554+28083T>G
XR_938990.1:n.299-35285T>G
XR_938991.1:n.434+28083T>G
XR_938994.1:n.779+28083T>G
XR_938995.1:n.613+28083T>G
XR_938986.2:n.459+28083T>G
XR_938987.2:n.748+28083T>G