Canonical Allele Identifier: CA341381973
Gene: SNX7 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.98695626T>C , CM000663.2:g.98695626T>C GRCh38
NC_000001.10:g.99161182T>C , CM000663.1:g.99161182T>C GRCh37
NC_000001.9:g.98933770T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306121.8:c.748T>C MANE Select ENSP00000304429.3:p.Phe250Leu
ENST00000306121.7:c.748T>C ENSP00000304429.3:p.Phe250Leu
ENST00000528824.1:c.*568T>C ENSP00000435172.1:n.*568T>C
ENST00000529992.5:c.583T>C ENSP00000434731.1:p.Phe195Leu
NM_015976.4:c.748T>C NP_057060.2:p.Phe250Leu
NM_152238.3:c.583T>C NP_689424.2:p.Phe195Leu
NR_033716.1:n.920T>C
XM_006710677.1:c.814T>C XP_006710740.1:p.Phe272Leu
XM_006710678.1:c.556T>C XP_006710741.1:p.Phe186Leu
XM_011541564.1:c.556T>C XP_011539866.1:p.Phe186Leu
NM_001364903.1:c.556T>C NP_001351832.1:p.Phe186Leu
XM_006710677.2:c.814T>C XP_006710740.1:p.Phe272Leu
XM_011541564.3:c.556T>C XP_011539866.1:p.Phe186Leu
XM_017001425.2:c.556T>C XP_016856914.1:p.Phe186Leu
XM_017001426.2:c.556T>C XP_016856915.1:p.Phe186Leu
XM_017001427.2:c.556T>C XP_016856916.1:p.Phe186Leu
XM_017001428.1:c.556T>C XP_016856917.1:p.Phe186Leu
NM_015976.5:c.748T>C MANE Select NP_057060.2:p.Phe250Leu
NM_152238.4:c.583T>C NP_689424.2:p.Phe195Leu
NR_033716.2:n.879T>C