Canonical Allele Identifier: CA2326967
Gene: CX3CR1 HGNC NCBI

Linked Data

dbSNP Id: rs771289099
gnomAD v2: 3-39307607-C-T
gnomAD v3: 3-39266116-C-T
gnomAD v4: 3-39266116-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39266116C>T , CM000665.2:g.39266116C>T GRCh38
NC_000003.11:g.39307607C>T , CM000665.1:g.39307607C>T GRCh37
NC_000003.10:g.39282611C>T NCBI36
NG_016362.1:g.20620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399220.3:c.394G>A MANE Select ENSP00000382166.3:p.Val132Ile
ENST00000358309.3:c.490G>A ENSP00000351059.3:p.Val164Ile
ENST00000399220.2:c.394G>A ENSP00000382166.2:p.Val132Ile
ENST00000435290.1:c.394G>A ENSP00000394960.1:p.Val132Ile
ENST00000541347.5:c.394G>A ENSP00000439140.1:p.Val132Ile
ENST00000542107.5:c.394G>A ENSP00000444928.1:p.Val132Ile
NM_001171171.1:c.394G>A NP_001164642.1:p.Val132Ile
NM_001171172.1:c.394G>A NP_001164643.1:p.Val132Ile
NM_001171174.1:c.490G>A NP_001164645.1:p.Val164Ile
NM_001337.3:c.394G>A NP_001328.1:p.Val132Ile
NM_001337.4:c.394G>A MANE Select NP_001328.1:p.Val132Ile
NM_001171171.2:c.394G>A NP_001164642.1:p.Val132Ile
NM_001171172.2:c.394G>A NP_001164643.1:p.Val132Ile