Canonical Allele Identifier: CA2326913
Gene: CX3CR1 HGNC NCBI

Linked Data

dbSNP Id: rs776940684
gnomAD v2: 3-39307321-G-A
gnomAD v4: 3-39265830-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39265830G>A , CM000665.2:g.39265830G>A GRCh38
NC_000003.11:g.39307321G>A , CM000665.1:g.39307321G>A GRCh37
NC_000003.10:g.39282325G>A NCBI36
NG_016362.1:g.20906C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399220.3:c.680C>T MANE Select ENSP00000382166.3:p.Ala227Val
ENST00000358309.3:c.776C>T ENSP00000351059.3:p.Ala259Val
ENST00000399220.2:c.680C>T ENSP00000382166.2:p.Ala227Val
ENST00000541347.5:c.680C>T ENSP00000439140.1:p.Ala227Val
ENST00000542107.5:c.680C>T ENSP00000444928.1:p.Ala227Val
NM_001171171.1:c.680C>T NP_001164642.1:p.Ala227Val
NM_001171172.1:c.680C>T NP_001164643.1:p.Ala227Val
NM_001171174.1:c.776C>T NP_001164645.1:p.Ala259Val
NM_001337.3:c.680C>T NP_001328.1:p.Ala227Val
NM_001337.4:c.680C>T MANE Select NP_001328.1:p.Ala227Val
NM_001171171.2:c.680C>T NP_001164642.1:p.Ala227Val
NM_001171172.2:c.680C>T NP_001164643.1:p.Ala227Val