Canonical Allele Identifier: CA352200793

Gene: CX3CR1

Linked Data

• COSMIC: COSM6164765 ; COSM6164766
• MyVariant Identifiers: chr3:g.39307243A>T (hg19) ; chr3:g.39265752A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39265752A>T , CM000665.2:g.39265752A>T	GRCh38
NC_000003.11:g.39307243A>T , CM000665.1:g.39307243A>T	GRCh37
NC_000003.10:g.39282247A>T	NCBI36
NG_016362.1:g.20984T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399220.3:c.758T>A MANE Select	ENSP00000382166.3:p.Leu253Gln
ENST00000358309.3:c.854T>A	ENSP00000351059.3:p.Leu285Gln
ENST00000399220.2:c.758T>A	ENSP00000382166.2:p.Leu253Gln
ENST00000541347.5:c.758T>A	ENSP00000439140.1:p.Leu253Gln
ENST00000542107.5:c.758T>A	ENSP00000444928.1:p.Leu253Gln
NM_001171171.1:c.758T>A	NP_001164642.1:p.Leu253Gln
NM_001171172.1:c.758T>A	NP_001164643.1:p.Leu253Gln
NM_001171174.1:c.854T>A	NP_001164645.1:p.Leu285Gln
NM_001337.3:c.758T>A	NP_001328.1:p.Leu253Gln
NM_001337.4:c.758T>A MANE Select	NP_001328.1:p.Leu253Gln
NM_001171171.2:c.758T>A	NP_001164642.1:p.Leu253Gln
NM_001171172.2:c.758T>A	NP_001164643.1:p.Leu253Gln