Canonical Allele Identifier: CA3198569

Gene: CMBL

Linked Data

• ClinVar Variation Id: 726244
• ClinVar RCV Id: RCV000900430
• dbSNP Id: rs144041333
• ExAC: 5:10282378 G / A
• gnomAD v2: 5-10282378-G-A
• gnomAD v3: 5-10282266-G-A
• gnomAD v4: 5-10282266-G-A
• MyVariant Identifiers: chr5:g.10282378G>A (hg19) ; chr5:g.10282266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10282266G>A , CM000667.2:g.10282266G>A	GRCh38
NC_000005.9:g.10282378G>A , CM000667.1:g.10282378G>A	GRCh37
NC_000005.8:g.10335378G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.489C>T MANE Select	ENSP00000296658.3:p.Asp163=
ENST00000296658.3:c.489C>T	ENSP00000296658.3:p.Asp163=
ENST00000503834.1:n.23C>T
ENST00000510532.5:n.535-1634C>T
NM_138809.3:c.489C>T	NP_620164.1:p.Asp163=
NM_138809.4:c.489C>T MANE Select	NP_620164.1:p.Asp163=