Canonical Allele Identifier: CA2326940
Gene: CX3CR1 HGNC NCBI

Linked Data

dbSNP Id: rs149456270
gnomAD v2: 3-39307494-C-A
gnomAD v3: 3-39266003-C-A
gnomAD v4: 3-39266003-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39266003C>A , CM000665.2:g.39266003C>A GRCh38
NC_000003.11:g.39307494C>A , CM000665.1:g.39307494C>A GRCh37
NC_000003.10:g.39282498C>A NCBI36
NG_016362.1:g.20733G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399220.3:c.507G>T MANE Select ENSP00000382166.3:p.Lys169Asn
ENST00000358309.3:c.603G>T ENSP00000351059.3:p.Lys201Asn
ENST00000399220.2:c.507G>T ENSP00000382166.2:p.Lys169Asn
ENST00000541347.5:c.507G>T ENSP00000439140.1:p.Lys169Asn
ENST00000542107.5:c.507G>T ENSP00000444928.1:p.Lys169Asn
NM_001171171.1:c.507G>T NP_001164642.1:p.Lys169Asn
NM_001171172.1:c.507G>T NP_001164643.1:p.Lys169Asn
NM_001171174.1:c.603G>T NP_001164645.1:p.Lys201Asn
NM_001337.3:c.507G>T NP_001328.1:p.Lys169Asn
NM_001337.4:c.507G>T MANE Select NP_001328.1:p.Lys169Asn
NM_001171171.2:c.507G>T NP_001164642.1:p.Lys169Asn
NM_001171172.2:c.507G>T NP_001164643.1:p.Lys169Asn