Canonical Allele Identifier: CA3507004

Gene: CSF1R

Linked Data

• dbSNP Id: rs761434499
• ExAC: 5:149453098 A / T
• gnomAD v2: 5-149453098-A-T
• gnomAD v4: 5-150073535-A-T
• MyVariant Identifiers: chr5:g.149453098A>T (hg19) ; chr5:g.150073535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073535A>T , CM000667.2:g.150073535A>T	GRCh38
NC_000005.9:g.149453098A>T , CM000667.1:g.149453098A>T	GRCh37
NC_000005.8:g.149433291A>T	NCBI36
NG_012303.1:g.44838T>A
NG_012303.2:g.44838T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.890-42T>A MANE Select	ENSP00000501699.1:n.890-42T>A
ENST00000286301.7:c.890-42T>A	ENSP00000286301.3:n.890-42T>A
ENST00000504875.5:c.890-42T>A	ENSP00000422212.1:n.890-42T>A
ENST00000543093.1:c.890-2964T>A	ENSP00000445282.1:n.890-2964T>A
NM_001288705.1:c.890-42T>A	NP_001275634.1:n.890-42T>A
NM_005211.3:c.890-42T>A	NP_005202.2:n.890-42T>A
NR_109969.1:n.1103-42T>A
NM_001288705.2:c.890-42T>A	NP_001275634.1:n.890-42T>A
NM_001349736.1:c.890-42T>A	NP_001336665.1:n.890-42T>A
NM_001288705.3:c.890-42T>A MANE Select	NP_001275634.1:n.890-42T>A
NM_001375320.1:c.890-42T>A	NP_001362249.1:n.890-42T>A
NM_001375321.1:c.446-42T>A	NP_001362250.1:n.446-42T>A
NR_164679.1:n.946-42T>A
NM_001349736.2:c.890-42T>A	NP_001336665.1:n.890-42T>A
NM_005211.4:c.890-42T>A	NP_005202.2:n.890-42T>A
NR_109969.2:n.1017-42T>A