Canonical Allele Identifier: CA361724567

Gene: CSF1R

Linked Data

• dbSNP Id: rs747430864
• gnomAD v4: 5-150073373-G-C
• MyVariant Identifiers: chr5:g.149452936G>C (hg19) ; chr5:g.150073373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073373G>C , CM000667.2:g.150073373G>C	GRCh38
NC_000005.9:g.149452936G>C , CM000667.1:g.149452936G>C	GRCh37
NC_000005.8:g.149433129G>C	NCBI36
NG_012303.1:g.45000C>G
NG_012303.2:g.45000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1010C>G MANE Select	ENSP00000501699.1:p.Thr337Ser
ENST00000286301.7:c.1010C>G	ENSP00000286301.3:p.Thr337Ser
ENST00000504875.5:c.1010C>G	ENSP00000422212.1:p.Thr337Ser
ENST00000543093.1:c.890-2802C>G	ENSP00000445282.1:n.890-2802C>G
NM_001288705.1:c.1010C>G	NP_001275634.1:p.Thr337Ser
NM_005211.3:c.1010C>G	NP_005202.2:p.Thr337Ser
NR_109969.1:n.1223C>G
NM_001288705.2:c.1010C>G	NP_001275634.1:p.Thr337Ser
NM_001349736.1:c.1010C>G	NP_001336665.1:p.Thr337Ser
NM_001288705.3:c.1010C>G MANE Select	NP_001275634.1:p.Thr337Ser
NM_001375320.1:c.1010C>G	NP_001362249.1:p.Thr337Ser
NM_001375321.1:c.566C>G	NP_001362250.1:p.Thr189Ser
NR_164679.1:n.1066C>G
NM_001349736.2:c.1010C>G	NP_001336665.1:p.Thr337Ser
NM_005211.4:c.1010C>G	NP_005202.2:p.Thr337Ser
NR_109969.2:n.1137C>G