Canonical Allele Identifier: CA117071348
Gene: CPLANE1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs906704297
gnomAD v2: 5-37249612-C-G
gnomAD v3: 5-37249510-C-G
gnomAD v4: 5-37249510-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249510C>G , CM000667.2:g.37249510C>G GRCh38
NC_000005.9:g.37249612C>G , CM000667.1:g.37249612C>G GRCh37
NC_000005.8:g.37285369C>G NCBI36
NG_032772.1:g.4919G>C
NG_032772.2:g.4919G>C

Transcript Alleles

HGVS Amino-acid Change
XR_925921.1:n.171+289C>G
NR_134263.1:n.176+289C>G