Canonical Allele Identifier: CA2326941

Gene: CX3CR1

Linked Data

• dbSNP Id: rs777578095
• ExAC: 3:39307498 G / A
• gnomAD v2: 3-39307498-G-A
• gnomAD v4: 3-39266007-G-A
• MyVariant Identifiers: chr3:g.39307498G>A (hg19) ; chr3:g.39266007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39266007G>A , CM000665.2:g.39266007G>A	GRCh38
NC_000003.11:g.39307498G>A , CM000665.1:g.39307498G>A	GRCh37
NC_000003.10:g.39282502G>A	NCBI36
NG_016362.1:g.20729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399220.3:c.503C>T MANE Select	ENSP00000382166.3:p.Thr168Ile
ENST00000358309.3:c.599C>T	ENSP00000351059.3:p.Thr200Ile
ENST00000399220.2:c.503C>T	ENSP00000382166.2:p.Thr168Ile
ENST00000541347.5:c.503C>T	ENSP00000439140.1:p.Thr168Ile
ENST00000542107.5:c.503C>T	ENSP00000444928.1:p.Thr168Ile
NM_001171171.1:c.503C>T	NP_001164642.1:p.Thr168Ile
NM_001171172.1:c.503C>T	NP_001164643.1:p.Thr168Ile
NM_001171174.1:c.599C>T	NP_001164645.1:p.Thr200Ile
NM_001337.3:c.503C>T	NP_001328.1:p.Thr168Ile
NM_001337.4:c.503C>T MANE Select	NP_001328.1:p.Thr168Ile
NM_001171171.2:c.503C>T	NP_001164642.1:p.Thr168Ile
NM_001171172.2:c.503C>T	NP_001164643.1:p.Thr168Ile