Canonical Allele Identifier: CA10623655

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 352099
• ClinVar RCV Id: RCV000401954
• dbSNP Id: rs371174880
• gnomAD v2: 5-149432858-T-C
• gnomAD v3: 5-150053295-T-C
• gnomAD v4: 5-150053295-T-C
• MyVariant Identifiers: chr5:g.149432858T>C (hg19) ; chr5:g.150053295T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150053295T>C , CM000667.2:g.150053295T>C	GRCh38
NC_000005.9:g.149432858T>C , CM000667.1:g.149432858T>C	GRCh37
NC_000005.8:g.149413051T>C	NCBI36
NG_012303.1:g.65078A>G
NG_021389.1:g.57690T>C
NG_012303.2:g.65078A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.*774A>G MANE Select	ENSP00000501699.1:n.*774A>G
ENST00000286301.7:c.*774A>G	ENSP00000286301.3:n.*774A>G
ENST00000504875.5:c.*1514A>G	ENSP00000422212.1:n.*1514A>G
NM_001288705.1:c.*774A>G	NP_001275634.1:n.*774A>G
NM_005211.3:c.*774A>G	NP_005202.2:n.*774A>G
NR_109969.1:n.3743A>G
NM_001288705.2:c.*774A>G	NP_001275634.1:n.*774A>G
NM_001349736.1:c.*774A>G	NP_001336665.1:n.*774A>G
NM_001288705.3:c.*774A>G MANE Select	NP_001275634.1:n.*774A>G
NM_001375320.1:c.*774A>G	NP_001362249.1:n.*774A>G
NM_001375321.1:c.*774A>G	NP_001362250.1:n.*774A>G
NR_164679.1:n.3586A>G
NM_001349736.2:c.*774A>G	NP_001336665.1:n.*774A>G
NM_005211.4:c.*774A>G	NP_005202.2:n.*774A>G
NR_109969.2:n.3657A>G