Canonical Allele Identifier: CA2326908
Gene: CX3CR1 HGNC NCBI

Linked Data

dbSNP Id: rs534344905
gnomAD v2: 3-39307277-G-C
gnomAD v3: 3-39265786-G-C
gnomAD v4: 3-39265786-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39265786G>C , CM000665.2:g.39265786G>C GRCh38
NC_000003.11:g.39307277G>C , CM000665.1:g.39307277G>C GRCh37
NC_000003.10:g.39282281G>C NCBI36
NG_016362.1:g.20950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399220.3:c.724C>G MANE Select ENSP00000382166.3:p.Leu242Val
ENST00000358309.3:c.820C>G ENSP00000351059.3:p.Leu274Val
ENST00000399220.2:c.724C>G ENSP00000382166.2:p.Leu242Val
ENST00000541347.5:c.724C>G ENSP00000439140.1:p.Leu242Val
ENST00000542107.5:c.724C>G ENSP00000444928.1:p.Leu242Val
NM_001171171.1:c.724C>G NP_001164642.1:p.Leu242Val
NM_001171172.1:c.724C>G NP_001164643.1:p.Leu242Val
NM_001171174.1:c.820C>G NP_001164645.1:p.Leu274Val
NM_001337.3:c.724C>G NP_001328.1:p.Leu242Val
NM_001337.4:c.724C>G MANE Select NP_001328.1:p.Leu242Val
NM_001171171.2:c.724C>G NP_001164642.1:p.Leu242Val
NM_001171172.2:c.724C>G NP_001164643.1:p.Leu242Val