Canonical Allele Identifier: CA2326969

Gene: CX3CR1

Linked Data

• dbSNP Id: rs771207991
• ExAC: 3:39307618 T / A
• gnomAD v2: 3-39307618-T-A
• gnomAD v4: 3-39266127-T-A
• MyVariant Identifiers: chr3:g.39307618T>A (hg19) ; chr3:g.39266127T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39266127T>A , CM000665.2:g.39266127T>A	GRCh38
NC_000003.11:g.39307618T>A , CM000665.1:g.39307618T>A	GRCh37
NC_000003.10:g.39282622T>A	NCBI36
NG_016362.1:g.20609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399220.3:c.383A>T MANE Select	ENSP00000382166.3:p.Tyr128Phe
ENST00000358309.3:c.479A>T	ENSP00000351059.3:p.Tyr160Phe
ENST00000399220.2:c.383A>T	ENSP00000382166.2:p.Tyr128Phe
ENST00000435290.1:c.383A>T	ENSP00000394960.1:p.Tyr128Phe
ENST00000541347.5:c.383A>T	ENSP00000439140.1:p.Tyr128Phe
ENST00000542107.5:c.383A>T	ENSP00000444928.1:p.Tyr128Phe
NM_001171171.1:c.383A>T	NP_001164642.1:p.Tyr128Phe
NM_001171172.1:c.383A>T	NP_001164643.1:p.Tyr128Phe
NM_001171174.1:c.479A>T	NP_001164645.1:p.Tyr160Phe
NM_001337.3:c.383A>T	NP_001328.1:p.Tyr128Phe
NM_001337.4:c.383A>T MANE Select	NP_001328.1:p.Tyr128Phe
NM_001171171.2:c.383A>T	NP_001164642.1:p.Tyr128Phe
NM_001171172.2:c.383A>T	NP_001164643.1:p.Tyr128Phe