Canonical Allele Identifier: CA553243412
Gene:

Linked Data

dbSNP Id: rs1257918595
gnomAD v2: 4-90518952-C-A
gnomAD v3: 4-89597801-C-A
gnomAD v4: 4-89597801-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89597801C>A , CM000666.2:g.89597801C>A GRCh38
NC_000004.11:g.90518952C>A , CM000666.1:g.90518952C>A GRCh37
NC_000004.10:g.90737975C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+9861C>A
XR_938987.1:n.433-352C>A
XR_938988.1:n.299-352C>A
XR_938990.1:n.298+9861C>A
XR_938991.1:n.298+9861C>A
XR_938992.1:n.298+9861C>A
XR_938994.1:n.643+9861C>A
XR_938995.1:n.477+9861C>A
XR_938996.1:n.298+9861C>A
XR_938997.1:n.298+9861C>A
XR_938986.2:n.323+9861C>A
XR_938987.2:n.493-352C>A